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What are the symptoms of Radio-ulnar synostosis type 2 ? | What are the signs and symptoms of Radio-ulnar synostosis type 2? The Human Phenotype Ontology provides the following list of signs and symptoms for Radio-ulnar synostosis type 2. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Autosomal dominant inheritance - Dislocated radial head - Limited elbow extension - Radioulnar synostosis - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common. | [
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What are the symptoms of Fanconi renotubular syndrome ? | What are the signs and symptoms of Fanconi renotubular syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Fanconi renotubular syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Autosomal dominant inheritance - Glycosuria - Hypokalemia - Hypophosphatemia - Lacticaciduria - Muscle weakness - Osteomalacia - Proteinuria - Renal insufficiency - Renal tubular dysfunction - Rickets - Short stature - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common. | [
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What are the symptoms of Malignant hyperthermia susceptibility type 3 ? | What are the signs and symptoms of Malignant hyperthermia susceptibility type 3? The Human Phenotype Ontology provides the following list of signs and symptoms for Malignant hyperthermia susceptibility type 3. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Alcohol-induced rhabdomyolysis - Anesthetic-induced rhabdomylosis - Elevated serum creatine phosphokinase - Exercise-induced rhabdomyolysis - Fever - Heterogeneous - Hyperkalemia - Hyperphosphatemia - Hypertonia - Lactic acidosis - Malignant hyperthermia - Myopathy - Viral infection-induced rhabdomyolysis - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common. | [
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What is (are) Prune belly syndrome ? | Prune belly syndrome, also called Eagle-Barrett syndrome, is a condition characterized by three main features: (1) a lack of abdominal muscles, causing the skin on the belly area to wrinkle and appear "prune-like"; (2) undescended testicles in males; and (3) urinary tract problems. The incidence of prune belly syndrome (PBS) is 1 in 40,000 births; 95% of cases occur in boys. The severity of symptoms in infants with prune belly syndrome can vary greatly from child to child. At one end of the spectrum, the condition may cause severe urogenital and pulmonary problems incompatible with life (resulting in stillbirth); at the other end of the spectrum, the condition may cause few, if any, urological abnormalities that require no treatment other than undescended testicle repair in males. The cause of the condition is unknown. | [
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What to do for High Blood Pressure and Kidney Disease ? | - Blood pressure is the force of blood pushing against blood vessel walls as the heart pumps out blood, and high blood pressure, also called hypertension, is an increase in the amount of force that blood places on blood vessels as it moves through the body. - High blood pressure can damage blood vessels in the kidneys, reducing their ability to work properly. When the force of blood flow is high, blood vessels stretch so blood flows more easily. Eventually, this stretching scars and weakens blood vessels throughout the body, including those in the kidneys. - High blood pressure is the second leading cause of kidney failure in the United States after diabetes. - A health care provider diagnoses high blood pressure when multiple blood pressure testsoften repeated over several visits to a health care providers officeshow that a systolic blood pressure is consistently above 140 or a diastolic blood pressure is consistently above 90. - Kidney disease is diagnosed with urine and blood tests. - The best way to slow or prevent kidney damage from high blood pressure is to take steps to lower blood pressure. These steps include a combination of medication and lifestyle changes, such as - healthy eating - physical activity - maintaining a healthy weight - quitting smoking - managing stress - No matter what the cause of the kidney disease, high blood pressure can increase damage to the kidneys. People with kidney disease should keep their blood pressure below 140/90. | [
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What are the treatments for Bronchiectasis ? | Bronchiectasis often is treated with medicines, hydration, and chest physical therapy (CPT). Your doctor may recommend surgery if the bronchiectasis is isolated to a section of lung or you have a lot of bleeding.
If the bronchiectasis is widespread and causing respiratory failure, your doctor may recommend oxygen therapy.
The goals of treatment are to:
Treat any underlying conditions and lung infections.
Remove mucus (a slimy substance) from your lungs. Maintaining good hydration helps with mucus removal.
Prevent complications.
Early diagnosis and treatment of the underlying cause of bronchiectasis may help prevent further lung damage.
In addition, any disease associated with the bronchiectasis, such as cystic fibrosisor immunodeficiency, also should be treated.
Medicines
Your doctor may prescribe antibiotics, bronchodilators, expectorants, or mucus-thinning medicines to treat bronchiectasis.
Antibiotics
Antibiotics are the main treatment for the repeated lung infections that bronchiectasis causes. Oral antibiotics often are used to treat these infections.
For hard-to-treat infections, your doctor may prescribe intravenous (IV) antibiotics. These medicines are given through an IV line inserted into your arm. Your doctor may help you arrange for a home care provider to give you IV antibiotics at home.
Expectorants and Mucus-Thinning Medicines
Your doctor may prescribe expectorants and mucus thinners to help you cough up mucus.
Expectorants help loosen the mucus in your lungs. They often are combined with decongestants, which may provide extra relief. Mucus thinners, such as acetylcysteine, loosen the mucus to make it easier to cough up.
For some of these treatments, little information is available to show how well they work.
Hydration
Drinking plenty of fluid, especially water, helps prevent airway mucus from becoming thick and sticky. Good hydration helps keep airway mucus moist and slippery, which makes it easier to cough up.
Chest Physical Therapy
CPT also is called physiotherapy (FIZ-e-o-THER-ah-pe) or chest clapping or percussion. This technique is generally performed by a respiratory therapist but can be done by a trained member of the family. It involves the therapist pounding your chest and back over and over with his or her hands or a device. Doing this helps loosen the mucus from your lungs so you can cough it up.
You can sit with your head tilted down or lie on your stomach with your head down while you do CPT. Gravity and force help drain the mucus from your lungs.
Some people find CPT hard or uncomfortable to do. Several devices can help with CPT, such as:
An electric chest clapper, known as a mechanical percussor.
An inflatable therapy vest that uses high-frequency air waves to force mucus toward your upper airways so you can cough it up.
A small handheld device that you breathe out through. It causes vibrations that dislodge the mucus.
A mask that creates vibrations to help break loose mucus from your airway walls.
Some of these methods and devices are popular with patients and doctors, but little information is available on how well they actually work. Choice usually is based on convenience and cost.
Several breathing techniques also are used to help move mucus to the upper airway so it can be coughed up. These techniques include forced expiration technique (FET) and active cycle breathing (ACB).
FET involves forcing out a couple of breaths and then doing relaxed breathing. ACB is FET that involves deep breathing exercises.
Other Treatments
Depending on your condition, your doctor also may recommend bronchodilators, inhaled corticosteroids, oxygen therapy, or surgery.
Bronchodilators
Bronchodilators relax the muscles around your airways. This helps open your airways and makes breathing easier. Most bronchodilators are inhaled medicines. You will use an inhaler or a nebulizer to breathe in a fine mist of medicine.
Inhaled bronchodilators work quickly because the medicine goes straight to your lungs. Your doctor may recommend that you use a bronchodilator right before you do CPT.
Inhaled Corticosteroids
If you also have wheezing or asthma with your bronchiectasis, your doctor may prescribe inhaled corticosteroids (used to treat inflammation in the airways).
Oxygen Therapy
Oxygen therapy can help raise low blood oxygen levels. For this treatment, you'll receive oxygen through nasal prongs or a mask. Oxygen therapy can be done at home, in a hospital, or in another health facility. (For more information, go to the Health Topics Oxygen Therapy article.)
Surgery
Your doctor may recommend surgery if no other treatments have helped and only one part of your airway is affected. If you have major bleeding in your airway, your doctor may recommend surgery to remove part of your airway or a procedure to control the bleeding.
In very rare instances of severe bronchiectasis, your doctor may recommend that you receive a lung transplant replacing your diseased lungs with a healthy set of lungs. | [
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What are the symptoms of Ectopic Kidney ? | An ectopic kidney may not cause any symptoms and may function normally, even though it is not in its usual position. Many people have an ectopic kidney and do not discover it until they have tests done for other reasons. Sometimes, a health care provider may discover an ectopic kidney after feeling a lump in the abdomen during an examination. In other cases, an ectopic kidney may cause abdominal pain or urinary problems. | [
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What are the genetic changes related to aspartylglucosaminuria ? | Mutations in the AGA gene cause aspartylglucosaminuria. The AGA gene provides instructions for producing an enzyme called aspartylglucosaminidase. This enzyme is active in lysosomes, which are structures inside cells that act as recycling centers. Within lysosomes, the enzyme helps break down complexes of sugar molecules (oligosaccharides) attached to certain proteins (glycoproteins). AGA gene mutations result in the absence or shortage of the aspartylglucosaminidase enzyme in lysosomes, preventing the normal breakdown of glycoproteins. As a result, glycoproteins can build up within the lysosomes. Excess glycoproteins disrupt the normal functions of the cell and can result in destruction of the cell. A buildup of glycoproteins seems to particularly affect nerve cells in the brain; loss of these cells causes many of the signs and symptoms of aspartylglucosaminuria. | [
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How many people are affected by autosomal dominant vitreoretinochoroidopathy ? | ADVIRC is considered a rare disease. Its prevalence is unknown. | [
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How many people are affected by SADDAN ? | This disorder is very rare; it has been described in only a small number of individuals worldwide. | [
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What are the symptoms of X-linked congenital stationary night blindness ? | What are the signs and symptoms of X-linked congenital stationary night blindness? The Human Phenotype Ontology provides the following list of signs and symptoms for X-linked congenital stationary night blindness. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Congenital stationary night blindness - Hemeralopia - Severe Myopia - X-linked recessive inheritance - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common. | [
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What is (are) Freiberg's disease ? | Freiberg's disease is rare condition that primarily affects the second or third metatarsal (the long bones of the foot). Although people of all ages can be affected by this condition, Freiberg's disease is most commonly diagnosed during adolescence through the second decade of life. Common signs and symptoms include pain and stiffness in the front of the foot, which often leads to a limp. Affected people may also experience swelling, limited range of motion, and tenderness of the affected foot. Symptoms are generally triggered by weight-bearing activities, including walking. The exact underlying cause of Freiberg's disease is currently unknown. Treatment depends on many factors, including the severity of condition; the signs and symptoms present; and the age of the patient. | [
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What causes Ehlers-Danlos syndrome, dermatosparaxis type ? | What causes Ehlers-Danlos syndrome, dermatosparaxis type? Ehlers-Danlos syndrome (EDS), dermatosparaxis type is caused by changes (mutations) in the ADAMTS2 gene. This gene encodes an enzyme that helps process several types of "procollagen molecules" (precursors of collagen). Collagen is a protein that provides structure and strength to connective tissues throughout the body. Mutations in ADAMTS2 lead to reduced levels of functional enzyme which interferes with the proper processing of procollagens. As a result, networks of collagen are not assembled properly. This weakens connective tissues and causes the many signs and symptoms associated with EDS, dermatosparaxis type. | [
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What are the symptoms of Limb-girdle muscular dystrophy, type 2C ? | What are the signs and symptoms of Limb-girdle muscular dystrophy, type 2C? The Human Phenotype Ontology provides the following list of signs and symptoms for Limb-girdle muscular dystrophy, type 2C. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Autosomal recessive inheritance - Calf muscle pseudohypertrophy - Elevated serum creatine phosphokinase - Flexion contracture - Gowers sign - Hyperlordosis - Muscle fiber necrosis - Muscular dystrophy - Pneumonia - Rapidly progressive - Restrictive lung disease - Right ventricular dilatation - Right ventricular hypertrophy - Scoliosis - Skeletal muscle atrophy - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common. | [
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What are the treatments for progressive supranuclear palsy ? | These resources address the diagnosis or management of progressive supranuclear palsy: - Gene Review: Gene Review: MAPT-Related Disorders - Genetic Testing Registry: Progressive supranuclear ophthalmoplegia - NHS Choices (UK): Diagnosis of Progressive Supranuclear Palsy - NHS Choices (UK): Treatment of Progressive Supranuclear Palsy - Partners in Parkinson's: Movement Disorder Specialist Finder - University of California, San Francisco (UCSF) Memory and Aging Center These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseling - Palliative Care | [
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Do you have information about Cochlear Implants | Summary : A cochlear implant is a small, complex electronic device that can help to provide a sense of sound. People who are profoundly deaf or severely hard-of-hearing can get help from them. The implant consists of two parts. One part sits on the outside of the body, behind the ear. A second part is surgically placed under the skin. An implant does not restore normal hearing. It can help a person understand speech. Children and adults can benefit from them. National Institute on Deafness and Other Communication Disorders | [
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How to diagnose Fanconi Anemia ? | People who have Fanconi anemia (FA) are born with the disorder. They may or may not show signs or symptoms of it at birth. For this reason, FA isn't always diagnosed when a person is born. In fact, most people who have the disorder are diagnosed between the ages of 2 and 15 years.
The tests used to diagnose FA depend on a person's age and symptoms. In all cases, medical and family histories are an important part of diagnosing FA. However, because FA has many of the same signs and symptoms as other diseases, only genetic testing can confirm its diagnosis.
Specialists Involved
A geneticist is a doctor or scientist who studies how genes work and how diseases and traits are passed from parents to children through genes.
Geneticists do genetic testing for FA. They also can provide counseling about how FA is inherited and the types of prenatal (before birth) testing used to diagnose it.
An obstetrician may detect birth defects linked to FA before your child is born. An obstetrician is a doctor who specializes in providing care for pregnant women.
After your child is born, a pediatrician also can help find out whether your child has FA. A pediatrician is a doctor who specializes in treating children and teens.
A hematologist (blood disease specialist) also may help diagnose FA.
Family and Medical Histories
FA is an inherited disease. Some parents are aware that their family has a medical history of FA, even if they don't have the disease.
Other parents, especially if they're FA carriers, may not be aware of a family history of FA. Many parents may not know that FA can be passed from parents to children.
Knowing your family medical history can help your doctor diagnose whether you or your child has FA or another condition with similar symptoms.
If your doctor thinks that you, your siblings, or your children have FA, he or she may ask you detailed questions about:
Any personal or family history of anemia
Any surgeries youve had related to the digestive system
Any personal or family history of immune disorders
Your appetite, eating habits, and any medicines you take
If you know your family has a history of FA, or if your answers to your doctor's questions suggest a possible diagnosis of FA, your doctor will recommend further testing.
Diagnostic Tests and Procedures
The signs and symptoms of FA aren't unique to the disease. They're also linked to many other diseases and conditions, such as aplastic anemia. For this reason, genetic testing is needed to confirm a diagnosis of FA. Genetic tests for FA include the following.
Chromosome Breakage Test
This is the most common test for FA. It's available only in special laboratories (labs). It shows whether your chromosomes (long chains of genes) break more easily than normal.
Skin cells sometimes are used for the test. Usually, though, a small amount of blood is taken from a vein in your arm using a needle. A technician combines some of the blood cells with certain chemicals.
If you have FA, the chromosomes in your blood sample break and rearrange when mixed with the test chemicals. This doesn't happen in the cells of people who don't have FA.
Cytometric Flow Analysis
Cytometric flow analysis, or CFA, is done in a lab. This test examines how chemicals affect your chromosomes as your cells grow and divide. Skin cells are used for this test.
A technician mixes the skin cells with chemicals that can cause the chromosomes in the cells to act abnormally. If you have FA, your cells are much more sensitive to these chemicals.
The chromosomes in your skin cells will break at a high rate during the test. This doesn't happen in the cells of people who don't have FA.
Mutation Screening
A mutation is an abnormal change in a gene or genes. Geneticists and other specialists can examine your genes, usually using a sample of your skin cells. With special equipment and lab processes, they can look for gene mutations that are linked to FA.
Diagnosing Different Age Groups
Before Birth (Prenatal)
If your family has a history of FA and you get pregnant, your doctor may want to test you or your fetus for FA.
Two tests can be used to diagnose FA in a developing fetus: amniocentesis (AM-ne-o-sen-TE-sis) and chorionic villus (ko-re-ON-ik VIL-us) sampling (CVS). Both tests are done in a doctor's office or hospital.
Amniocentesis is done 15 to 18 weeks after a pregnant woman's last period. A doctor uses a needle to remove a small amount of fluid from the sac around the fetus. A technician tests chromosomes (chains of genes) from the fluid sample to see whether they have faulty genes associated with FA.
CVS is done 10 to 12 weeks after a pregnant woman's last period. A doctor inserts a thin tube through the vagina and cervix to the placenta (the temporary organ that connects the fetus to the mother).
The doctor removes a tissue sample from the placenta using gentle suction. The tissue sample is sent to a lab to be tested for genetic defects associated with FA.
At Birth
Three out of four people who inherit FA are born with birth defects. If your baby is born with certain birth defects, your doctor may recommend genetic testing to confirm a diagnosis of FA.
For more information about these defects, go to What Are the Signs and Symptoms of Fanconi Anemia?
Childhood and Later
Some people who have FA are not born with birth defects. Doctors may not diagnose them with the disorder until signs of bone marrow failure or cancer occur. This usually happens within the first 10 years of life.
Signs of bone marrow failure most often begin between the ages of 3 and 12 years, with 7 to 8 years as the most common ages. However, 10 percent of children who have FA aren't diagnosed until after 16 years of age.
If your bone marrow is failing, you may have signs of aplastic anemia. FA is one type of aplastic anemia.
In aplastic anemia, your bone marrow stops making or doesn't make enough of all three types of blood cells: red blood cells, white blood cells, and platelets.
Aplastic anemia can be inherited or acquired after birth through exposure to chemicals, radiation, or medicines.
Doctors diagnose aplastic anemia using:
Family and medical histories and a physical exam.
A complete blood count (CBC) to check the number, size, and condition of your red blood cells. The CBC also checks numbers of white blood cells and platelets.
A reticulocyte (re-TIK-u-lo-site) count. This test counts the number of new red blood cells in your blood to see whether your bone marrow is making red blood cells at the proper rate.
Bone marrow tests. For a bone marrow aspiration, a small amount of liquid bone marrow is removed and tested to see whether it's making enough blood cells. For a bone marrow biopsy, a small amount of bone marrow tissue is removed and tested to see whether it's making enough blood cells.
If you or your child is diagnosed with aplastic anemia, your doctor will want to find the cause. If your doctor suspects you have FA, he or she may recommend genetic testing.
For more information, go to the Health Topics Aplastic Anemia article. | [
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What is (are) Autoimmune Diseases ? | Your body's immune system protects you from disease and infection. But if you have an autoimmune disease, your immune system attacks healthy cells in your body by mistake. Autoimmune diseases can affect many parts of the body. No one is sure what causes autoimmune diseases. They do tend to run in families. Women - particularly African-American, Hispanic-American, and Native-American women - have a higher risk for some autoimmune diseases. There are more than 80 types of autoimmune diseases, and some have similar symptoms. This makes it hard for your health care provider to know if you really have one of these diseases, and if so, which one. Getting a diagnosis can be frustrating and stressful. Often, the first symptoms are fatigue, muscle aches and a low fever. The classic sign of an autoimmune disease is inflammation, which can cause redness, heat, pain and swelling. The diseases may also have flare-ups, when they get worse, and remissions, when symptoms get better or disappear. Treatment depends on the disease, but in most cases one important goal is to reduce inflammation. Sometimes doctors prescribe corticosteroids or other drugs that reduce your immune response. | [
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What are the symptoms of Polyglucosan body disease, adult ? | What are the signs and symptoms of Polyglucosan body disease, adult? The Human Phenotype Ontology provides the following list of signs and symptoms for Polyglucosan body disease, adult. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormal pyramidal signs 90% Abnormal renal physiology 90% Cognitive impairment 90% Erectile abnormalities 90% Gait disturbance 90% Hemiplegia/hemiparesis 90% Hypertonia 90% Muscle weakness 90% Peripheral neuropathy 90% Behavioral abnormality 50% Skin ulcer 50% Abnormality of extrapyramidal motor function 7.5% Developmental regression 7.5% EMG abnormality 7.5% Incoordination 7.5% Limitation of joint mobility 7.5% Abnormal upper motor neuron morphology - Abnormality of metabolism/homeostasis - Adult onset - Autosomal recessive inheritance - Distal sensory impairment - Paresthesia - Slow progression - Tetraparesis - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common. | [
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What is the outlook for Tourette Syndrome ? | Although TS can be a chronic condition with symptoms lasting a lifetime, most people with the condition experience their worst symptoms in their early teens, with improvement occurring in the late teens and continuing into adulthood. As a result, some individuals may actually become symptom free or no longer need medication for tic suppression. | [
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How many people are affected by SOX2 anophthalmia syndrome ? | SOX2 anophthalmia syndrome is estimated to affect 1 in 250,000 individuals. About 10 percent to 15 percent of people with anophthalmia in both eyes have SOX2 anophthalmia syndrome. | [
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How to diagnose Urinary Incontinence ? | The first step in treating urinary incontinence is to see a health care provider. He or she will give you a physical exam and take your medical history. The provider will ask about your symptoms and the medicines you use. He or she will want to know if you have been sick recently or have had surgery. Your provider also may do a number of tests. These might include - urine tests - tests that measure how well you empty your bladder, usually by ultrasound. urine tests tests that measure how well you empty your bladder, usually by ultrasound. In addition, your health care provider may ask you to keep a daily diary of when you urinate and when you leak urine. Your family provider may also send you to a urologist or urogynecologist, a doctor who specializes in urinary tract problems. Learn more about how urinary incontinence is diagnosed in men and women. | [
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What is (are) Stroke ? | One test that helps doctors judge the severity of a stroke is the standardized NIH Stroke Scale, developed by the National Institute of Neurological Disorders and Stroke at the National Institutes of Health, or NIH. Health care professionals use the NIH Stroke Scale to measure a patient's neurological deficits by asking the patient to answer questions and to perform several physical and mental tests. Other scales include the Glasgow Coma Scale, the Hunt and Hess Scale, the Modified Rankin Scale, and the Barthel Index. | [
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What are the symptoms of Spondylometaphyseal dysplasia with cone-rod dystrophy ? | What are the signs and symptoms of Spondylometaphyseal dysplasia with cone-rod dystrophy? The Human Phenotype Ontology provides the following list of signs and symptoms for Spondylometaphyseal dysplasia with cone-rod dystrophy. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormality of retinal pigmentation 90% Abnormality of color vision 50% Astigmatism 50% Hyperlordosis 50% Hypermetropia 50% Myopia 50% Nystagmus 50% Photophobia 50% Scoliosis 50% Visual impairment 50% Brachydactyly syndrome 7.5% Limitation of joint mobility 7.5% Abnormality of macular pigmentation - Autosomal recessive inheritance - Cone/cone-rod dystrophy - Coxa vara - Cupped ribs - Dental malocclusion - Femoral bowing - Hypoplastic inferior ilia - Joint stiffness - Metaphyseal cupping - Metaphyseal irregularity - Metaphyseal widening - Narrow greater sacrosciatic notches - Ovoid vertebral bodies - Postnatal growth retardation - Progressive visual loss - Recurrent otitis media - Rhizomelia - Severe platyspondyly - Short finger - Short metacarpal - Spondylometaphyseal dysplasia - Tibial bowing - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common. | [
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How to diagnose Stenotrophomonas maltophilia infection ? | How is Stenotrophomonas maltophilia infection diagnosed? Stenotrophomonas maltophilia (S. maltophilia) infection is usually diagnosed by examining a small sample of blood, mucus, and/or urine. When an infection is suspected, possible sites of infection including wounds, intravenous (vein) catheters, urinary catheters, and breathing machines should also be tested for the presence of S. maltophilia bacteria. | [
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What is (are) Juvenile dermatomyositis ? | Juvenile dermatomyositis has some similarities to adult dermatomyositis and polymyositis. It typically affects children ages 2 to 15 years, with symptoms that include weakness of the muscles close to the trunk of the body, inflammation, edema, muscle pain, fatigue, skin rashes, abdominal pain, fever, and contractures. Children with juvenile dermatomyositis may have difficulty swallowing and breathing, and the heart may also be affected. About 20 to 30 percent of children with juvenile dermatomyositis develop calcium deposits in the soft tissue. Affected children may not show higher than normal levels of the muscle enzyme creatine kinase in their blood but have higher than normal levels of other muscle enzymes. | [
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What is the outlook for Hereditary Neuropathies ? | The prognosis for individuals with hereditary neuropathies depends upon the type of neuropathy. Some hereditary neuropathies have very mild symptoms and may go undiagnosed for many years. Other types are more severe and are associated with more disabilities. Genetic counseling is important to understand further details about the disease and prognosis. | [
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What is (are) Klippel Feil Syndrome ? | Klippel-Feil Syndrome is a rare disorder characterized by the congenital fusion of two or more cervical (neck) vertebrae. It is caused by a failure in the normal segmentation or division of the cervical vertebrae during the early weeks of fetal development. The most common signs of the disorder are short neck, low hairline at the back of the head, and restricted mobility of the upper spine. The fused vertebrae can cause nerve damage and pain in the head, neck, or back. Associated abnormalities may include scoliosis (curvature of the spine), spina bifida (a birth defect of the spine), cleft palate, respiratory problems, and heart malformations. Other features may include joint pain; anomalies of the head and face, skeleton, sex organs, muscles, brain and spinal cord, arms, legs, and fingers; and difficulties hearing. Most cases are sporadic (happen on their own) but mutations in the GDF6 (growth differentiation factor 6) or GDF3 (growth differentiation factor 3) genes can cause the disorder. These genes make proteins that are involved in bone development and segmentation of the vertebrae. | [
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What are the treatments for genitopatellar syndrome ? | These resources address the diagnosis or management of genitopatellar syndrome: - Gene Review: Gene Review: KAT6B-Related Disorders - Genetic Testing Registry: Genitopatellar syndrome These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseling - Palliative Care | [
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What is (are) congenital insensitivity to pain with anhidrosis ? | Congenital insensitivity to pain with anhidrosis (CIPA) has two characteristic features: the inability to feel pain and temperature, and decreased or absent sweating (anhidrosis). This condition is also known as hereditary sensory and autonomic neuropathy type IV. The signs and symptoms of CIPA appear early, usually at birth or during infancy, but with careful medical attention, affected individuals can live into adulthood. An inability to feel pain and temperature often leads to repeated severe injuries. Unintentional self-injury is common in people with CIPA, typically by biting the tongue, lips, or fingers, which may lead to spontaneous amputation of the affected area. In addition, people with CIPA heal slowly from skin and bone injuries. Repeated trauma can lead to chronic bone infections (osteomyelitis) or a condition called Charcot joints, in which the bones and tissue surrounding joints are destroyed. Normally, sweating helps cool the body temperature. However, in people with CIPA, anhidrosis often causes recurrent, extremely high fevers (hyperpyrexia) and seizures brought on by high temperature (febrile seizures). In addition to the characteristic features, there are other signs and symptoms of CIPA. Many affected individuals have thick, leathery skin (lichenification) on the palms of their hands or misshapen fingernails or toenails. They can also have patches on their scalp where hair does not grow (hypotrichosis). About half of people with CIPA show signs of hyperactivity or emotional instability, and many affected individuals have intellectual disability. Some people with CIPA have weak muscle tone (hypotonia) when they are young, but muscle strength and tone become more normal as they get older. | [
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What is (are) PDGFRA-associated chronic eosinophilic leukemia ? | PDGFRA-associated chronic eosinophilic leukemia is a form of blood cell cancer characterized by an elevated number of cells called eosinophils in the blood. These cells help fight infections by certain parasites and are involved in the inflammation associated with allergic reactions. However, these circumstances do not account for the increased number of eosinophils in PDGFRA-associated chronic eosinophilic leukemia. Another characteristic feature of PDGFRA-associated chronic eosinophilic leukemia is organ damage caused by the excess eosinophils. Eosinophils release substances to aid in the immune response, but the release of excessive amounts of these substances causes damage to one or more organs, most commonly the heart, skin, lungs, or nervous system. Eosinophil-associated organ damage can lead to a heart condition known as eosinophilic endomyocardial disease, skin rashes, coughing, difficulty breathing, swelling (edema) in the lower limbs, confusion, changes in behavior, or impaired movement or sensations. People with PDGFRA-associated chronic eosinophilic leukemia can also have an enlarged spleen (splenomegaly) and elevated levels of certain chemicals called vitamin B12 and tryptase in the blood. Some people with PDGFRA-associated chronic eosinophilic leukemia have an increased number of other types of white blood cells, such as neutrophils or mast cells. Occasionally, people with PDGFRA-associated chronic eosinophilic leukemia develop other blood cell cancers, such as acute myeloid leukemia or B-cell or T-cell acute lymphoblastic leukemia or lymphoblastic lymphoma. PDGFRA-associated chronic eosinophilic leukemia is often grouped with a related condition called hypereosinophilic syndrome. These two conditions have very similar signs and symptoms; however, the cause of hypereosinophilic syndrome is unknown. | [
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What is (are) Neck Injuries and Disorders ? | Any part of your neck - muscles, bones, joints, tendons, ligaments, or nerves - can cause neck problems. Neck pain is very common. Pain may also come from your shoulder, jaw, head, or upper arms. Muscle strain or tension often causes neck pain. The problem is usually overuse, such as from sitting at a computer for too long. Sometimes you can strain your neck muscles from sleeping in an awkward position or overdoing it during exercise. Falls or accidents, including car accidents, are another common cause of neck pain. Whiplash, a soft tissue injury to the neck, is also called neck sprain or strain. Treatment depends on the cause, but may include applying ice, taking pain relievers, getting physical therapy or wearing a cervical collar. You rarely need surgery. | [
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Do you have information about Pulmonary Rehabilitation | Summary : Pulmonary rehabilitation (rehab) is a medically supervised program to help people who have chronic breathing problems, including - COPD (chronic obstructive pulmonary disease) - Sarcoidosis - Idiopathic pulmonary fibrosis - Cystic fibrosis During pulmonary rehab you may do exercise training and learn breathing techniques. You'll also get tips on conserving your energy and advice on nutrition and coping. These can't cure your lung disease or completely ease your breathing problems. But it can help you function better in your daily life. NIH: National Heart, Lung, and Blood Institute | [
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What are the genetic changes related to myosin storage myopathy ? | Mutations in the MYH7 gene cause myosin storage myopathy. The MYH7 gene provides instructions for making a protein known as the cardiac beta ()-myosin heavy chain. This protein is found in heart (cardiac) muscle and in type I skeletal muscle fibers, one of two types of fibers that make up the muscles that the body uses for movement. Cardiac -myosin heavy chain is the major component of the thick filament in muscle cell structures called sarcomeres. Sarcomeres, which are made up of thick and thin filaments, are the basic units of muscle contraction. The overlapping thick and thin filaments attach to each other and release, which allows the filaments to move relative to one another so that muscles can contract. Mutations in the MYH7 gene lead to the production of an altered cardiac -myosin heavy chain protein, which is thought to be less able to form thick filaments. The altered proteins accumulate in type I skeletal muscle fibers, forming the protein clumps characteristic of the disorder. It is unclear how these changes lead to muscle weakness in people with myosin storage myopathy. | [
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Do you have information about Ebola | Summary : Ebola hemorrhagic fever is caused by a virus. It is a severe and often fatal disease. It can affect humans and other primates. Researchers believe that the virus first spreads from an infected animal to a human. It can then spread from human to human through direct contact with a patient's blood or secretions. Symptoms of Ebola may appear anywhere from 2 to 21 days after exposure to the virus. Symptoms usually include - Fever - Headache - Joint and muscle aches - Weakness - Diarrhea - Vomiting - Stomach pain - Lack of appetite Other symptoms including rash, red eyes, and internal and external bleeding, may also occur. The early symptoms of Ebola are similar to other, more common, diseases. This makes it difficult to diagnose Ebola in someone who has been infected for only a few days. However, if a person has the early symptoms of Ebola and there is reason to suspect Ebola, the patient should be isolated. It is also important to notify public health professionals. Lab tests can confirm whether the patient has Ebola. There is no cure for Ebola. Treatment involves supportive care such as fluids, oxygen, and treatment of complications. Some people who get Ebola are able to recover, but many do not. Centers for Disease Control and Prevention | [
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What is (are) Meralgia Paresthetica ? | Meralgia paresthetica is a disorder characterized by tingling, numbness, and burning pain in the outer side of the thigh. The disorder is caused by compression of the lateral femoral cutaneous nerve, a sensory nerve to the skin, as it exits the pelvis. People with the disorder often notice a patch of skin that is sensitive to touch and sometimes painful. Meralgia paresthetica should not be associated with weakness or radiating pain from the back. | [
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What are the symptoms of Hairy Cell Leukemia ? | Signs and symptoms of hairy cell leukemia include infections, tiredness, and pain below the ribs. These and other signs and symptoms may be caused by hairy cell leukemia or by other conditions. Check with your doctor if you have any of the following: - Weakness or feeling tired. - Fever or frequent infections. - Easy bruising or bleeding. - Shortness of breath. - Weight loss for no known reason. - Pain or a feeling of fullness below the ribs. - Painless lumps in the neck, underarm, stomach, or groin. | [
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What is (are) distal arthrogryposis type 1 ? | Distal arthrogryposis type 1 is a disorder characterized by joint deformities (contractures) that restrict movement in the hands and feet. The term "arthrogryposis" comes from the Greek words for joint (arthro-) and crooked or hooked (gryposis). The characteristic features of this condition include permanently bent fingers and toes (camptodactyly), overlapping fingers, and a hand deformity in which all of the fingers are angled outward toward the fifth finger (ulnar deviation). Clubfoot, which is an inward- and upward-turning foot, is also commonly seen with distal arthrogryposis type 1. The specific hand and foot abnormalities vary among affected individuals. However, this condition typically does not cause any signs and symptoms affecting other parts of the body. | [
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What is (are) Scoliosis ? | Scoliosis causes a sideways curve of your backbone, or spine. These curves are often S- or C-shaped. Scoliosis is most common in late childhood and the early teens, when children grow fast. Girls are more likely to have it than boys. It can run in families. Symptoms include leaning to one side and having uneven shoulders and hips. Doctors use your medical and family history, a physical exam, and imaging tests to diagnose scoliosis. Treatment depends on your age, how much more you're likely to grow, how much curving there is, and whether the curve is temporary or permanent. People with mild scoliosis might only need checkups to see if the curve is getting worse. Others might need to wear a brace or have surgery. NIH: National Institute of Arthritis and Musculoskeletal and Skin Diseases | [
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Is Type 1 plasminogen deficiency inherited ? | Is plasminogen deficiency, type 1 inherited? If so, in what manner? Plasminogen deficiency, type 1 is inherited in an autosomal recessive fashion, which means that an individual must inherit two disease-causing mutated copies of the plasminogen gene in order to have the condition and exhibit symptoms. | [
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Is Nicolaides-Baraitser syndrome inherited ? | How is Nicolaides-Baraitser syndrome inherited? Nicolaides-Baraitser syndrome (NCBRS) is inherited in an autosomal dominant manner. This means that having a change (mutation) in only one of the two copies of the responsible gene in each cell is enough to cause features of the condition. All known cases of NCBRS have been sporadic. This means it is thought that the mutation occurred for the first time in each affected person (called a de novo mutation). There have not been reports of NCBRS being inherited from a parent, or recurring in any family (with the exception of one pair of identical twins). | [
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What are the treatments for optic atrophy type 1 ? | These resources address the diagnosis or management of optic atrophy type 1: - Gene Review: Gene Review: Optic Atrophy Type 1 - Genetic Testing Registry: Dominant hereditary optic atrophy - MedlinePlus Encyclopedia: Optic Nerve Atrophy - MedlinePlus Encyclopedia: Visual Acuity Test These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseling - Palliative Care | [
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What are the treatments for Diagnosis of Diabetes and Prediabetes ? | People can manage their diabetes with meal planning, physical activity, and if needed, medications. More information about taking care of type 1 or type 2 diabetes is provided in the NIDDK health topics:
- What I need to know about Diabetes Medicines - What I need to know about Eating and Diabetes - Your Guide to Diabetes: Type 1 and Type 2
These NDIC publications are available at http://www.niddk.nih.gov/health-information/health-topics/Diabetes/Pages/default.aspx or by calling 18008608747. | [
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Is ataxia with oculomotor apraxia inherited ? | This condition is inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition. | [
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Do you have information about Radon | Summary : You can't see radon. And you can't smell it or taste it. But it may be a problem in your home. Radon comes from the natural breakdown of uranium in soil, rock, and water. Radon is the second leading cause of lung cancer in the United States. There are low levels of radon outdoors. Indoors, there can be high levels. Radon can enter homes and buildings through cracks in floors, walls, or foundations. Radon can also be in your water, especially well water. Testing is the only way to know if your home has elevated radon levels. It is inexpensive and easy. You can buy a test kit at most hardware stores or hire someone to do a test. Radon reduction systems can bring the amount of radon down to a safe level. The cost depends on the size and design of your home. | [
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How to diagnose Familial isolated hyperparathyroidism ? | How is familial isolated hyperparathyroidism diagnosed? The diagnosis of familial isolated hyperparathyroidism (FIHP) is primarily a diagnosis of exclusion. This means that it is diagnosed when no symptoms or genetic features of other forms of familial hyperparathyroidism are present. FIHP may be the only feature of another condition that is not manifesting completely, or it may be a distinct condition due to mutations in genes that have not yet been identified. Clinical exams, laboratory tests, and histological (microscopic) findings are needed before making a diagnosis of FIHP. A diagnosis of FIHP may include the findings of: hypercalcemia (defined as a serum calcium level greater than 10.5 mg/dL) inappropriately high parathyroid hormone (PTH) concentrations parathyroid adenomas exclusion of multiple endocrine neoplasia type 1 (MEN 1) and hyperparathyroidism-jaw tumor syndrome (HPT-JT) In the majority of people with FIHP, genetic mutations are not found. However, in some people, mutations in the MEN1, CASR, and CDC73 (HRPT2) genes have been reported. At this time, no gene has been associated exclusively with FIHP. | [
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What are the symptoms of Ichthyosis follicularis atrichia photophobia syndrome ? | What are the signs and symptoms of Ichthyosis follicularis atrichia photophobia syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Ichthyosis follicularis atrichia photophobia syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Alopecia 90% Cognitive impairment 90% Cryptorchidism 90% Dry skin 90% Hydrocephalus 90% Ichthyosis 90% Low-set, posteriorly rotated ears 90% Microcephaly 90% Optic atrophy 90% Photophobia 90% Renal hypoplasia/aplasia 90% Seizures 90% Abnormality of the fingernails 50% Aganglionic megacolon 50% Aplasia/Hypoplasia affecting the eye 50% Cleft palate 50% Convex nasal ridge 50% Developmental regression 50% Eczema 50% Hearing impairment 50% Hypohidrosis 50% Intrauterine growth retardation 50% Iris coloboma 50% Multicystic kidney dysplasia 50% Plagiocephaly 50% Postaxial hand polydactyly 50% Recurrent respiratory infections 50% Scoliosis 50% Vertebral segmentation defect 50% Vesicoureteral reflux 50% Abnormality of dental enamel 7.5% Aplasia/Hypoplasia of the cerebellum 7.5% Astigmatism 7.5% Camptodactyly of finger 7.5% Cataract 7.5% Cerebral cortical atrophy 7.5% Cheilitis 7.5% Choanal atresia 7.5% Delayed skeletal maturation 7.5% Frontal bossing 7.5% Inflammatory abnormality of the eye 7.5% Kyphosis 7.5% Macrotia 7.5% Muscular hypotonia 7.5% Myopia 7.5% Nystagmus 7.5% Omphalocele 7.5% Opacification of the corneal stroma 7.5% Platyspondyly 7.5% Short stature 7.5% Split hand 7.5% Urticaria 7.5% Hip dislocation 5% Abnormality of the ribs - Abnormality of the vertebrae - Absent eyebrow - Absent eyelashes - Brain atrophy - Congenital onset - Ectodermal dysplasia - Erythroderma - Follicular hyperkeratosis - Hypoplasia of the corpus callosum - Inguinal hernia - Intellectual disability - Nail dysplasia - Nail dystrophy - Oligohydramnios - Olivopontocerebellar atrophy - Recurrent corneal erosions - Renal dysplasia - Scaling skin - Umbilical hernia - Unilateral chest hypoplasia - Unilateral renal agenesis - Variable expressivity - Ventriculomegaly - X-linked recessive inheritance - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common. | [
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How many people are affected by Larsen syndrome ? | Larsen syndrome occurs in approximately 1 in 100,000 newborns. | [
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How to diagnose Diffuse idiopathic skeletal hyperostosis ? | How is diffuse idiopathic skeletal hyperostosis diagnosed? A diagnosis of diffuse idiopathic skeletal hyperostosis (DISH) is often suspected based on the presence of characteristic signs and symptoms. X-rays may then be ordered to confirm the diagnosis. In some cases, a computed tomography (CT scan) and/or magnetic resonance imaging (MRI) may also be ordered to rule out other conditions that cause similar features. | [
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What are the treatments for Catecholaminergic polymorphic ventricular tachycardia ? | Do all people with catecholaminergic polymorphic ventricular tachycardia require treatment? It has been recommended that all people clinically diagnosed with catecholaminergic polymorphic ventricular tachycardia (CPVT) receive treatment. Some individuals who have never had or demonstrated symptoms of CPVT, for example asymptomatic family members with CASQ2 gene mutations, may still benefit from treatment. We recommend that you speak with your healthcare provider regarding your treatment options. | [
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What is (are) Schizencephaly ? | Schizencephaly is a rare congenital (present from birth) brain malformation in which abnormal slits or clefts form in the cerebral hemispheres of the brain. The signs and symptoms of this condition may include developmental delay, seizures, and problems with brain-spinal cord communication. Affected people may also have an abnormally small head (microcephaly); hydrocephalus; intellectual disability; partial or complete paralysis; and/or poor muscle tone (hypotonia). Severity of symptoms depends on many factors including the extent of the clefting and whether or not other brain abnormalities are present. Although the exact cause of schizencephaly is unknown, it has been linked to a variety of genetic and non-genetic factors. Treatment generally consists of physical therapy and drugs to prevent seizures. In cases that are complicated by hydrocephalus, a surgically implanted tube, called a shunt, is often used to divert fluid to another area of the body where it can be absorbed. | [
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What are the symptoms of Ichthyosis bullosa of Siemens ? | What are the signs and symptoms of Ichthyosis bullosa of Siemens? The Human Phenotype Ontology provides the following list of signs and symptoms for Ichthyosis bullosa of Siemens. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormal blistering of the skin 90% Acantholysis 90% Edema 90% Palmoplantar keratoderma 90% Thin skin 90% Autosomal dominant inheritance - Congenital bullous ichthyosiform erythroderma - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common. | [
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What is (are) Financial Help for Diabetes Care ? | People who enroll in Medicare can register with www.MyMedicare.gov, a secure online service, and use the site to access their personal Medicare information at any time. People can view their claims and order history, and see a description of covered preventive services. | [
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What are the symptoms of Pontocerebellar hypoplasia type 5 ? | What are the signs and symptoms of Pontocerebellar hypoplasia type 5? The Human Phenotype Ontology provides the following list of signs and symptoms for Pontocerebellar hypoplasia type 5. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Autosomal recessive inheritance - Microcephaly - Olivopontocerebellar hypoplasia - Seizures - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common. | [
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What causes Lymphomatoid papulosis ? | What causes lymphomatoid papulosis? The cause of lymphomatoid papulosis is unknown, but it is associated with a proliferation of atypical T-cells. T-cells are specific white blood cells involved in immune responses. | [
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How to diagnose Primary CNS Lymphoma ? | Tests that examine the eyes, brain, and spinal cord are used to detect (find) and diagnose primary CNS lymphoma. The following tests and procedures may be used: - Physical exam and history : An exam of the body to check general signs of health, including checking for signs of disease, such as lumps or anything else that seems unusual. A history of the patients health habits and past illnesses and treatments will also be taken. - Neurological exam : A series of questions and tests to check the brain, spinal cord, and nerve function. The exam checks a persons mental status, coordination, ability to walk normally, and how well the muscles, senses, and reflexes work. This may also be called a neuro exam or a neurologic exam. - Slit-lamp eye exam : An exam that uses a special microscope with a bright, narrow slit of light to check the outside and inside of the eye. - MRI (magnetic resonance imaging): A procedure that uses a magnet, radio waves, and a computer to make a series of detailed pictures of areas inside the brain and spinal cord. A substance called gadolinium is injected into the patient through a vein. The gadolinium collects around the cancer cells so they show up brighter in the picture. This procedure is also called nuclear magnetic resonance imaging (NMRI). - PET scan (positron emission tomography scan): A procedure to find malignant tumor cells in the body. A small amount of radioactive glucose (sugar) is injected into a vein. The PET scanner rotates around the body and makes a picture of where glucose is being used in the body. Malignant tumor cells show up brighter in the picture because they are more active and take up more glucose than normal cells do. - Lumbar puncture : A procedure used to collect cerebrospinal fluid (CSF) from the spinal column. This is done by placing a needle between two bones in the spine and into the CSF around the spinal cord and removing a sample of the fluid. The sample of CSF is checked under a microscope for signs of tumor cells. The sample may also be checked for the amounts of protein and glucose. A higher than normal amount of protein or lower than normal amount of glucose may be a sign of a tumor. This procedure is also called an LP or spinal tap. - Stereotactic biopsy : A biopsy procedure that uses a computer and a 3-dimensional (3-D) scanning device to find a tumor site and guide the removal of tissue so it can be viewed under a microscope to check for signs of cancer. The following tests may be done on the samples of tissue that are removed: - Flow cytometry : A laboratory test that measures the number of cells in a sample, the percentage of live cells in a sample, and certain characteristics of cells, such as size, shape, and the presence of tumor markers on the cell surface. The cells are stained with a light-sensitive dye, placed in a fluid, and passed in a stream before a laser or other type of light. The measurements are based on how the light-sensitive dye reacts to the light. - Immunohistochemistry : A test that uses antibodies to check for certain antigens in a sample of tissue. The antibody is usually linked to a radioactive substance or a dye that causes the tissue to light up under a microscope. This type of test may be used to tell the difference between different types of cancer. - Cytogenetic analysis: A laboratory test in which cells in a sample of tissue are viewed under a microscope to look for certain changes in the chromosomes. Other tests, such as fluorescence in situ hybridization (FISH), may also be done to look for certain changes in the chromosomes. - Complete blood count (CBC) with differential : A procedure in which a sample of blood is drawn and checked for the following: - The number of red blood cells and platelets. - The number and type of white blood cells. - The amount of hemoglobin (the protein that carries oxygen) in the red blood cells. - The portion of the blood sample made up of red blood cells. - Blood chemistry studies : A procedure in which a blood sample is checked to measure the amounts of certain substances released into the blood by organs and tissues in the body. An unusual (higher or lower than normal) amount of a substance can be a sign of disease. | [
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] |
What are the treatments for prostate cancer ? | These resources address the diagnosis or management of prostate cancer: - American College of Radiology: Prostate Cancer Radiation Treatment - Genetic Testing Registry: Familial prostate cancer - Genetic Testing Registry: Prostate cancer, hereditary, 2 - MedlinePlus Encyclopedia: Prostate Brachytherapy - MedlinePlus Encyclopedia: Prostate Cancer Staging - MedlinePlus Encyclopedia: Prostate Cancer Treatment - MedlinePlus Encyclopedia: Prostate-Specific Antigen (PSA) Blood Test - MedlinePlus Encyclopedia: Radical Prostatectomy - MedlinePlus Health Topic: Prostate Cancer Screening - National Cancer Institute: Prostate-Specific Antigen (PSA) Test - U.S. Preventive Services Task Force These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseling - Palliative Care | [
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Do you have information about Vitamins | Summary : Vitamins are substances that your body needs to grow and develop normally. There are 13 vitamins your body needs. They are - Vitamin A - B vitamins (thiamine, riboflavin, niacin, pantothenic acid, biotin, vitamin B-6, vitamin B-12 and folate) - Vitamin C - Vitamin D - Vitamin E - Vitamin K You can usually get all your vitamins from the foods you eat. Your body can also make vitamins D and K. People who eat a vegetarian diet may need to take a vitamin B12 supplement. Each vitamin has specific jobs. If you have low levels of certain vitamins, you may get health problems. For example, if you don't get enough vitamin C, you could become anemic. Some vitamins may help prevent medical problems. Vitamin A prevents night blindness. The best way to get enough vitamins is to eat a balanced diet with a variety of foods. In some cases, you may need to take vitamin supplements. It's a good idea to ask your health care provider first. High doses of some vitamins can cause problems. | [
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What is (are) Pancreatic Neuroendocrine Tumors (Islet Cell Tumors) ? | Key Points
- Pancreatic neuroendocrine tumors form in hormone-making cells (islet cells) of the pancreas. - Pancreatic NETs may or may not cause signs or symptoms. - There are different kinds of functional pancreatic NETs. - Having certain syndromes can increase the risk of pancreatic NETs. - Different types of pancreatic NETs have different signs and symptoms. - Lab tests and imaging tests are used to detect (find) and diagnose pancreatic NETs. - Other kinds of lab tests are used to check for the specific type of pancreatic NETs. - Certain factors affect prognosis (chance of recovery) and treatment options.
Pancreatic neuroendocrine tumors form in hormone-making cells (islet cells) of the pancreas.
The pancreas is a gland about 6 inches long that is shaped like a thin pear lying on its side. The wider end of the pancreas is called the head, the middle section is called the body, and the narrow end is called the tail. The pancreas lies behind the stomach and in front of the spine. There are two kinds of cells in the pancreas: - Endocrine pancreas cells make several kinds of hormones (chemicals that control the actions of certain cells or organs in the body), such as insulin to control blood sugar. They cluster together in many small groups (islets) throughout the pancreas. Endocrine pancreas cells are also called islet cells or islets of Langerhans. Tumors that form in islet cells are called islet cell tumors, pancreatic endocrine tumors, or pancreatic neuroendocrine tumors (pancreatic NETs). - Exocrine pancreas cells make enzymes that are released into the small intestine to help the body digest food. Most of the pancreas is made of ducts with small sacs at the end of the ducts, which are lined with exocrine cells. This summary discusses islet cell tumors of the endocrine pancreas. See the PDQ summary on Pancreatic Cancer Treatment for information on exocrine pancreatic cancer. Pancreatic neuroendocrine tumors (NETs) may be benign (not cancer) or malignant (cancer). When pancreatic NETs are malignant, they are called pancreatic endocrine cancer or islet cell carcinoma. Pancreatic NETs are much less common than pancreatic exocrine tumors and have a better prognosis.
There are different kinds of functional pancreatic NETs.
Pancreatic NETs make different kinds of hormones such as gastrin, insulin, and glucagon. Functional pancreatic NETs include the following: - Gastrinoma: A tumor that forms in cells that make gastrin. Gastrin is a hormone that causes the stomach to release an acid that helps digest food. Both gastrin and stomach acid are increased by gastrinomas. When increased stomach acid, stomach ulcers, and diarrhea are caused by a tumor that makes gastrin, it is called Zollinger-Ellison syndrome. A gastrinoma usually forms in the head of the pancreas and sometimes forms in the small intestine. Most gastrinomas are malignant (cancer). - Insulinoma: A tumor that forms in cells that make insulin. Insulin is a hormone that controls the amount of glucose (sugar) in the blood. It moves glucose into the cells, where it can be used by the body for energy. Insulinomas are usually slow-growing tumors that rarely spread. An insulinoma forms in the head, body, or tail of the pancreas. Insulinomas are usually benign (not cancer). - Glucagonoma: A tumor that forms in cells that make glucagon. Glucagon is a hormone that increases the amount of glucose in the blood. It causes the liver to break down glycogen. Too much glucagon causes hyperglycemia (high blood sugar). A glucagonoma usually forms in the tail of the pancreas. Most glucagonomas are malignant (cancer). - Other types of tumors: There are other rare types of functional pancreatic NETs that make hormones, including hormones that control the balance of sugar, salt, and water in the body. These tumors include: - VIPomas, which make vasoactive intestinal peptide. VIPoma may also be called Verner-Morrison syndrome. - Somatostatinomas, which make somatostatin. These other types of tumors are grouped together because they are treated in much the same way. | [
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What are the treatments for Afibrinogenemia ? | How might afibrinogenemia be treated? There is no known prevention or cure for afibrinogenemia. To treat bleeding episodes or to prepare for surgery to treat other conditions, patients may receive: The liquid portion of the blood (plasma) A blood product containing concentrated fibrinogen (cryoprecipitate) through a vein (transfusion) Prophylactic therapy should also be considered for patients with recurrent bleeding episodes, CNS hemorrhage, or during pregnancy for women with recurrent miscarriage. Individuals with afibrinogenemia should consider the following as part of their management plan: Consultation with a hematologist/hemostasis specialist, particularly for patients who require fibrinogen replacement therapy. Genetic counseling and family studies, especially for individuals with extensive family history or those considering pregnancy. Follow-up by a comprehensive bleeding disorder care team experienced in diagnosing and managing inherited bleeding disorders. Vaccination with the hepatitis B vaccine because transfusion increases the risk of hepatitis. | [
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Is mucopolysaccharidosis type VI inherited ? | This condition is inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition. | [
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How to diagnose Chronic fatigue syndrome ? | How is chronic fatigue syndrome diagnosed? No specific diagnostic tests are available. Though there is no definitive diagnostic test, the diagnosis can be made if the patient has a typical history, and no abnormality can be detected on the exam or in the screening tests. The Committee on the Diagnostic Criteria for Myalgic Encephalomyelitis/Chronic Fatigue Syndrome, The Board of Select Populations and the Institute of Medicine proposed a diagnosis criteria which requires that the patient have the following three symptoms: 1. A chronic fatigue that interferes with the daily activities and work, which is often profound, is of new or definite onset (not lifelong), is not the result of ongoing excessive exertion or other medical conditions, and is not greatly alleviated by rest. 2. Post-exertional malaise. 3. Unrefreshing sleep. At least one of the two following symptoms is also required: 1. Cognitive impairment (imparirment of short memory or concentration). 2. Orthostatic intolerance (Onset of symptoms when standing upright that are improved by lying back down). Other symptoms include post exertion illness lasting more than 24 hours, muscle pain, pain in the joints, headaces, tender lymph nodes and sore throat. These symptoms should have persisted or recurred during 6 or more consecutive months of illness and they cannot have first appeared before the fatigue. The following tests are expected to be normal in patients with chronic fatigue syndrome: Complete blood count with differential count; Chemistry screen; Thyroid stimulating hormone level; Other tests based in the patients symptoms like immunologic tests or serologic tests. | [
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Do you have information about Inhalants | Summary : If you're a parent, you may fear that your kids will use drugs such as marijuana or LSD. But you may not realize the dangers of substances in your own home. Household products such as glues, hair sprays, paints and lighter fluid can be drugs for kids in search of a quick high. Many young people inhale vapors from these, not knowing that it can cause serious health problems. Both parents and kids need to know the dangers. Even inhaling once can disrupt heart rhythms and lower oxygen levels. Either of these can cause death. Regular abuse can result in serious harm to the brain, heart, kidneys, and liver. NIH: National Institute on Drug Abuse | [
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How to prevent High Blood Pressure ? | You can take steps to help prevent high blood pressure by adopting these healthy lifestyle habits. - Follow a healthy eating plan like DASH (Dietary Approaches to Stop Hypertension), which emphasizes fruits, vegetables, fat-free and low-fat milk and milk products, and whole grains, fish, poultry, beans, seeds, and nuts, and choose and prepare foods with less sodium (salt). See how the DASH diet (Dietary Approaches to Stop Hypertension) can help with blood pressure control. Follow a healthy eating plan like DASH (Dietary Approaches to Stop Hypertension), which emphasizes fruits, vegetables, fat-free and low-fat milk and milk products, and whole grains, fish, poultry, beans, seeds, and nuts, and choose and prepare foods with less sodium (salt). See how the DASH diet (Dietary Approaches to Stop Hypertension) can help with blood pressure control. - Be physically active for at least 2 and one-half hours a week. Check out Exercises to Try for older adults, or visit Go4Life, the exercise and physical activity campaign from the National Institute on Aging. (Watch the video to learn how exercise helps maintain healthy aging. To enlarge the video, click the brackets in the lower right-hand corner. To reduce the video, press the Escape (Esc) button on your keyboard.) Be physically active for at least 2 and one-half hours a week. Check out Exercises to Try for older adults, or visit Go4Life, the exercise and physical activity campaign from the National Institute on Aging. (Watch the video to learn how exercise helps maintain healthy aging. To enlarge the video, click the brackets in the lower right-hand corner. To reduce the video, press the Escape (Esc) button on your keyboard.) - Maintain a healthy weight and lose weight if you are overweight or obese. Body mass index (BMI) and waist circumference are measures used to determine if someone is overweight or obese. See the BMI calculator to determine your body mass index. Maintain a healthy weight and lose weight if you are overweight or obese. Body mass index (BMI) and waist circumference are measures used to determine if someone is overweight or obese. See the BMI calculator to determine your body mass index. - If you drink alcoholic beverages, do so in moderation: no more than one drink a day for women, no more than two drinks a day for men. If you drink alcoholic beverages, do so in moderation: no more than one drink a day for women, no more than two drinks a day for men. - Quit smoking, or don't start smoking. To get help quitting, call 1 (800) QUIT-NOW or check out Quitting Smoking for Older Adults. Quit smoking, or don't start smoking. To get help quitting, call 1 (800) QUIT-NOW or check out Quitting Smoking for Older Adults. - Learn to manage stress. Learn about relaxation techniques that may relieve tension. Learn to manage stress. Learn about relaxation techniques that may relieve tension. | [
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What is (are) Spleen Diseases ? | Your spleen is an organ above your stomach and under your ribs on your left side. It is about as big as your fist. The spleen is part of your lymphatic system, which fights infection and keeps your body fluids in balance. It contains white blood cells that fight germs. Your spleen also helps control the amount of blood in your body, and destroys old and damaged cells. Certain diseases might cause your spleen to swell. You can also damage or rupture your spleen in an injury, especially if it is already swollen. If your spleen is too damaged, you might need surgery to remove it. You can live without a spleen. Other organs, such as your liver, will take over some of the spleen's work. Without a spleen, however, your body will lose some of its ability to fight infections. | [
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What are the symptoms of Benign familial neonatal-infantile seizures ? | What are the signs and symptoms of Benign familial neonatal-infantile seizures? The Human Phenotype Ontology provides the following list of signs and symptoms for Benign familial neonatal-infantile seizures. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Autosomal dominant inheritance - Bilateral convulsive seizures - Cyanosis - Dialeptic seizures - Focal seizures - Focal seizures, afebril - Normal interictal EEG - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common. | [
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What are the genetic changes related to iron-refractory iron deficiency anemia ? | Mutations in the TMPRSS6 gene cause iron-refractory iron deficiency anemia. This gene provides instructions for making a protein called matriptase-2, which helps regulate iron levels in the body. TMPRSS6 gene mutations reduce or eliminate functional matriptase-2, which disrupts iron regulation and leads to a shortage of iron in the bloodstream. Iron is an essential component of hemoglobin, which is the molecule in red blood cells that carries oxygen. When not enough iron is available in the bloodstream, less hemoglobin is produced, causing red blood cells to be abnormally small and pale. The abnormal cells cannot carry oxygen effectively to the body's cells and tissues, which leads to fatigue, weakness, and other symptoms of anemia. | [
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Who is at risk for Prostate Cancer? ? | Scientists have wondered whether obesity, lack of exercise, smoking, and radiation exposure, might increase risk. But at this time, there is no conclusive evidence that any of these factors contribute to an increased risk. | [
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What are the treatments for Proctitis ? | Treatment of proctitis depends on its cause. The goal of treatment is to reduce inflammation, control symptoms, and eliminate infection, if it is present. Only a doctor can determine the cause of proctitis and the best course of treatment. With proper medical attention, proctitis can be successfully treated.
Proctitis from Infection
If lab tests confirm that an STD or non-STD infection is present, medication is prescribed based on the type of infection found. Antibiotics are prescribed to kill bacteria; antiviral medications are prescribed to treat viruses. Although some STD viruses cannot be eliminated, antivirals can control their symptoms.
Proctitis from Other Causes
If antibiotic use triggered proctitis, the doctor may prescribe a different antibiotic designed to destroy the harmful bacteria that have developed in the intestines.
If proctitis is caused by anorectal trauma, the activity causing the inflammation should be stopped. Healing usually occurs in 4 to 6 weeks. The doctor may recommend over-the-counter medications such as antidiarrheals and those used for pain relief, such as aspirin and ibuprofen.
Treatment of radiation proctitis is based on symptoms. Radiation proctitis causing only mild symptoms such as occasional bleeding or tenesmus may heal without treatment. For people with persistent or severe bleeding, thermal therapy may be used to stop bleeding and inflammation. Thermal therapy is done during flexible sigmoidoscopy or colonoscopy and targets the rectal lining with a heat probe, electric current, or laser. Argon plasma coagulation is the most common thermal therapy used to control bleeding in radiation proctitis. In many cases, several treatments are required. Obstruction that results from a stricturea narrowing of the rectumcaused by radiation proctitis may be treated with stool softeners in mild cases. In people with narrower strictures, dilation to enlarge the narrow area may be required. Sucralfate, 5-aminosalicylic acidknown as 5-ASAor corticosteroid enemas can also be used to ease pain and reduce inflammation from radiation proctitis, although their effectiveness is limited.
When a chronic IBD such as ulcerative colitis or Crohns disease causes proctitis, treatment aims to reduce inflammation, control symptoms, and induce and maintain remissiona period when the person is symptom-free. Treatment depends on the extent and severity of the disease.
Anti-inflammation medications. Mild proctitis can often be effectively treated with topical mesalamine, either suppositories or enemas.
Some people with IBD and proctitis cannot tolerateor may have an incomplete response torectal therapy with 5-ASA suppositories or enemas. For these people, the doctor may prescribe oral medications alone or in combination with rectal therapy. Oral medications commonly used for proctitis contain salicylate. These include sulfasalazine- or mesalamine-containing medications, such as Asacol, Dipentum, or Pentasa. Possible side effects of oral administration of sulfasalazine- or mesalaminecontaining medications include nausea, vomiting, heartburn, diarrhea, and headache. Improvement in symptoms, including a decrease in bleeding, can occur within a few days, although complete healing requires 4 to 6 weeks of therapy.
Cortisone or steroids. These medications, also called corticosteroids, are effective at reducing inflammation. Prednisone and budesonide are generic names of two medications in this group. Corticosteroids for proctitis may be taken in pill, suppository, or enema form. When symptoms are at their worst, corticosteroids are usually prescribed in a large dose. The dosage is then gradually lowered once symptoms are controlled. Corticosteroids can cause serious side effects, including greater susceptibility to infection and osteoporosis, or weakening of the bones.
Immune system suppressors. Medications that suppress the immune systemcalled immunosuppressive medicationsare also used to treat proctitis. The most commonly prescribed medication is 6-mercaptopurine or a related medication, azathioprine. Immunosuppressive medications work by blocking the immune reaction that contributes to inflammation. These medications may cause side effects such as nausea, vomiting, and diarrhea and may lower a persons resistance to infection. Some patients are treated with a combination of corticosteroids and immunosuppressive medications. Some studies suggest that immunosuppressive medications may enhance the effectiveness of corticosteroids.
Infliximab (Remicade). Researchers have found that high levels of a protein produced by the immune system, called tumor necrosis factor (TNF), are present in people with Crohns disease. Infliximab is the first of a group of medications that bind to TNF substances to block the bodys inflammation response. The U.S. Food and Drug Administration approved the medication for the treatment of moderate to severe Crohns disease that does not respond to standard therapiesmesalamine substances, corticosteroids, immunosuppressive medicationsand for the treatment of open, draining fistulas. The medication is also given to people who have Crohns disease with proctitis. Some studies suggest that infliximab may enhance the effectiveness of immunosuppressive medications.
Bacterial infection can occur with flare-ups of ulcerative colitis or Crohns disease. Antibiotics may also be used to treat flare-ups in people with IBD and proctitis.
More information about the treatment of IBD is provided in the NIDDK health topics, Ulcerative Colitis and Crohns Disease. | [
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] |
What is (are) Polymyalgia Rheumatica ? | Polymyalgia rheumatica is a disorder that causes muscle pain and stiffness in your neck, shoulders, and hips. It is most common in women and almost always occurs in people over 50. The main symptom is stiffness after resting. Other symptoms include fever, weakness and weight loss. In some cases, polymyalgia rheumatica develops overnight. In others, it is gradual. The cause is not known. There is no single test to diagnose polymyalgia rheumatica. Your doctor will use your medical history, symptoms, and a physical exam to make the diagnosis. Lab tests for inflammation may help confirm the diagnosis. Polymyalgia rheumatica sometimes occurs along with giant cell arteritis, a condition that causes swelling of the arteries in your head. Symptoms include headaches and blurred vision. Doctors often prescribe prednisone, a steroid medicine, for both conditions. With treatment, polymyalgia rheumatica usually disappears in a day or two. Without treatment, it usually goes away after a year or more. NIH: National Institute of Arthritis and Musculoskeletal and Skin Diseases | [
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What is (are) Tylosis with esophageal cancer ? | Tylosis with esophageal cancer (TOC) is an inherited condition characterized by palmoplantar keratoderma and esophageal cancer. The palmoplantar keratoderma usually begins around age 10, and esophageal cancer may form after age 20. This condition is caused by a mutation in the RHBDF2 gene and is inherited in an autosomal dominant pattern. | [
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What is (are) juvenile Batten disease ? | Juvenile Batten disease is an inherited disorder that primarily affects the nervous system. After a few years of normal development, children with this condition develop progressive vision loss, intellectual and motor disability, speech difficulties, and seizures. Vision impairment is often the first noticeable sign of juvenile Batten disease, beginning between the ages of 4 and 8 years. Vision loss tends to progress rapidly, eventually resulting in blindness. After vision impairment has begun, children with juvenile Batten disease experience the loss of previously acquired skills (developmental regression), usually beginning with the ability to speak in complete sentences. Affected children also have difficulty learning new information. In addition to the intellectual decline, affected children lose motor skills such as the ability to walk or sit. They also develop movement abnormalities that include rigidity or stiffness, slow or diminished movements (hypokinesia), and stooped posture. Affected children may have recurrent seizures (epilepsy), heart problems, behavioral problems, difficulty sleeping, and problems with attention that begin in mid- to late childhood. Most people with juvenile Batten disease live into their twenties or thirties. Juvenile Batten disease is one of a group of disorders known as neuronal ceroid lipofuscinoses (NCLs). These disorders all affect the nervous system and typically cause progressive problems with vision, movement, and thinking ability. The different types of NCLs are distinguished by the age at which signs and symptoms first appear. Some people refer to the entire group of NCLs as Batten disease, while others limit that designation to the juvenile form of the disorder. | [
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What are the treatments for hypomyelination and congenital cataract ? | These resources address the diagnosis or management of hypomyelination and congenital cataract: - Gene Review: Gene Review: Hypomyelination and Congenital Cataract - Genetic Testing Registry: Hypomyelination and Congenital Cataract - MedlinePlus Encyclopedia: Congenital Cataract - MedlinePlus Encyclopedia: Muscle Atrophy These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseling - Palliative Care | [
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What is (are) Embryonal carcinoma ? | Embryonal carcinoma is a type of testicular cancer, which is cancer that starts in the testicles, the male reproductive glands located in the scrotum. It most often develops in young and middle-aged men. It tends to grow rapidly and spread outside the testicle. Embryonal carcinomas are classified as nonseminoma germ cell tumors. Most testicular cancers grow from germ cells, the cells that make sperm. Germ cell tumors are broadly divided into seminomas and nonseminomas because each type has a different prognosis and treatment regimen. Nonseminomas, which are more common, tend to grow more quickly than seminomas. Nonseminoma tumors are often made up of more than one type of cell, and are identified according to the different cell types. | [
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What is the outlook for Colpocephaly ? | The prognosis for individuals with colpocephaly depends on the severity of the associated conditions and the degree of abnormal brain development. Some children benefit from special education. | [
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What are the symptoms of Cardiomyopathy dilated with woolly hair and keratoderma ? | What are the signs and symptoms of Cardiomyopathy dilated with woolly hair and keratoderma? The Human Phenotype Ontology provides the following list of signs and symptoms for Cardiomyopathy dilated with woolly hair and keratoderma. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Hypertrophic cardiomyopathy 90% Palmoplantar keratoderma 90% Woolly hair 90% Abnormal blistering of the skin 7.5% Congestive heart failure 7.5% Ventricular tachycardia 5% Autosomal dominant inheritance - Congenital bullous ichthyosiform erythroderma - Dilated cardiomyopathy - Reduced number of teeth - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common. | [
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What to do for Lupus Nephritis ? | - Lupus nephritis is kidney inflammation caused by systemic lupus erythematosus (SLE or lupus). - The symptoms of lupus nephritis may include high blood pressure, foamy urine, and edema. - Lupus nephritis is diagnosed through urine and blood tests and a kidney biopsy. - Lupus nephritis is treated with medications that suppress the immune system, so it stops attacking and damaging the kidneys. Standard treatment includes a corticosteroid, usually prednisone, to reduce inflammation in the kidneys. An immunosuppressive medication, such as cyclophosphamide or mycophenolate mofetil, is typically used with prednisone. - People with lupus nephritis that is causing high blood pressure may need to take medications that lower their blood pressure, which can also significantly slow the progression of kidney disease. - In many cases, treatment is effective in completely or partially controlling lupus nephritis, resulting in few, if any, further complications. However, even with treatment, 10 to 30 percent of people with lupus nephritis develop kidney failure. | [
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What is (are) Causes of Diabetes ? | Diabetes is a complex group of diseases with a variety of causes. People with diabetes have high blood glucose, also called high blood sugar or hyperglycemia.
Diabetes is a disorder of metabolismthe way the body uses digested food for energy. The digestive tract breaks down carbohydratessugars and starches found in many foodsinto glucose, a form of sugar that enters the bloodstream. With the help of the hormone insulin, cells throughout the body absorb glucose and use it for energy. Diabetes develops when the body doesnt make enough insulin or is not able to use insulin effectively, or both.
Insulin is made in the pancreas, an organ located behind the stomach. The pancreas contains clusters of cells called islets. Beta cells within the islets make insulin and release it into the blood.
If beta cells dont produce enough insulin, or the body doesnt respond to the insulin that is present, glucose builds up in the blood instead of being absorbed by cells in the body, leading to prediabetes or diabetes. Prediabetes is a condition in which blood glucose levels or A1C levelswhich reflect average blood glucose levelsare higher than normal but not high enough to be diagnosed as diabetes. In diabetes, the bodys cells are starved of energy despite high blood glucose levels.
Over time, high blood glucose damages nerves and blood vessels, leading to complications such as heart disease, stroke, kidney disease, blindness, dental disease, and amputations. Other complications of diabetes may include increased susceptibility to other diseases, loss of mobility with aging, depression, and pregnancy problems. No one is certain what starts the processes that cause diabetes, but scientists believe genes and environmental factors interact to cause diabetes in most cases.
The two main types of diabetes are type 1 diabetes and type 2 diabetes. A third type, gestational diabetes, develops only during pregnancy. Other types of diabetes are caused by defects in specific genes, diseases of the pancreas, certain drugs or chemicals, infections, and other conditions. Some people show signs of both type 1 and type 2 diabetes. | [
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Is Chronic hiccups inherited ? | Are chronic hiccups inherited? Chronic hiccups are not thought to be inherited. Most cases occur sporadically in people with no family history of the condition. | [
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What are the treatments for paroxysmal extreme pain disorder ? | These resources address the diagnosis or management of paroxysmal extreme pain disorder: - Genetic Testing Registry: Paroxysmal extreme pain disorder These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseling - Palliative Care | [
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What are the symptoms of Epilepsy juvenile absence ? | What are the signs and symptoms of Epilepsy juvenile absence? The Human Phenotype Ontology provides the following list of signs and symptoms for Epilepsy juvenile absence. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Absence seizures - Autosomal dominant inheritance - EEG with spike-wave complexes (>3.5 Hz) - Generalized myoclonic seizures - Generalized tonic-clonic seizures on awakening - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common. | [
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What are the treatments for Heart Failure ? | For severe heart failure, patients may require additional oxygen, a mechanical heart pump, or a heart transplant. | [
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What is (are) Epidermolysis bullosa ? | Epidermolysis bullosa (EB) is a group of genetic skin diseases that cause the skin to blister very easily. Blisters form in response to minor injuries or friction, such as rubbing or scratching. There are four main types of epidermolysis bullosa: Dystrophic epidermolysis bullosa Epidermolysis bullosa simplex Junctional epidermolysis bullosa Kindler Syndrome Identifying the exact type can be hard because there are many subtypes of EB. Within each type or subtype, a person may be mildly or severely affected. The disease can range from being a minor inconvenience to completely disabling, and fatal in some cases. Most types of EB are inherited. The inheritance pattern may be autosomal dominant or autosomal recessive. Management involves protecting the skin, reducing friction against the skin, and keeping the skin cool. | [
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What causes Iridocorneal endothelial syndrome ? | What causes iridocorneal endothelial (ICE) syndrome? The cause of this disease is unknown. However, it has been theorized that a viral infection, such as Herpes simplex virus (HSV) or Epstein-Barr virus (EBV) may be the trigger that causes the cornea to swell. | [
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What are the treatments for Spondylothoracic dysostosis ? | What treatment is available for spondylothoracic dysostosis? Many infants born with spondylothoracic dysostosis have difficulty breathing due to their small, malformed chests, and therefore are prone to repeated respiratory infections (pneumonia). As the infant grows, the chest is too small to accommodate the growing lungs, and as a result, life threatening complications may develop. Treatment usually consists of intensive medical care, including treatment of respiratory infections, bone surgery, and orthopedic treatment. | [
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What are the symptoms of Spinocerebellar ataxia autosomal recessive 8 ? | What are the signs and symptoms of Spinocerebellar ataxia autosomal recessive 8? The Human Phenotype Ontology provides the following list of signs and symptoms for Spinocerebellar ataxia autosomal recessive 8. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Incoordination 90% Cerebellar atrophy - Dysarthria - Dysmetria - Gait ataxia - Limb ataxia - Nystagmus - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common. | [
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Is Osteogenesis imperfecta type VI inherited ? | How is osteogenesis imperfecta type 6 inherited? Osteogenesis imperfecta type 6 has an autosomal recessive pattern of inheritance. Autosomal recessive inheritance means that two copies of the gene in each cell are altered. The parents of a child with an autosomal recessive disorder typically are not affected, but each carry one copy of the altered gene (they are referred to as carriers). When two carriers for an autosomal recessive condition have children, each child has a 25% (1 in 4) risk to have the condition, a 50% (1 in 2) risk to be a carrier, and a 25% chance to not have the condition and not be a carrier. The children of an individual with an autosomal recessive type of OI are always carriers for a disease-causing mutation. | [
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What is (are) Gamma heavy chain disease ? | Gamma heavy chain disease is characterized by the abnormal production of antibodies. Antibodies are made up of light chains and heavy chains. In this disorder, the heavy chain of the gamma antibody (IgG) is overproduced by the body. Gamma heavy chain disease mainly affects older adults and is similar to aggressive malignant (cancerous) lymphoma. However, some people with this disorder have no symptoms. People with symptoms may respond to chemotherapy drugs, corticosteroids, and radiation therapy. Approximately one-third of individuals with gamma heavy chain disease are also diagnosed with an autoimmune disorder. | [
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What are the treatments for Meningitis and Encephalitis ? | Anyone experiencing symptoms of meningitis or encephalitis should see a doctor immediately. Antibiotics for most types of meningitis can greatly reduce the risk of dying from the disease. Antiviral medications may be prescribed for viral encephalitis or other severe viral infections.Anticonvulsants are used to prevent or treat seizures. Corticosteroidd rugs can reduce brain swelling and inflammation. Over-the-counter medications may be used for fever and headache. Individuals with encephalitis or bacterial meningitis are usually hospitalized for treatment. Affected individuals with breathing difficulties may require artificial respiration. | [
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What is (are) Obesity Hypoventilation Syndrome ? | Obesity hypoventilation (HI-po-ven-tih-LA-shun) syndrome (OHS) is a breathing disorder that affects some obese people. In OHS, poor breathing results in too much carbon dioxide (hypoventilation) and too little oxygen in the blood (hypoxemia).
OHS sometimes is called Pickwickian syndrome.
Overview
To understand OHS, it helps to understand how the lungs work. When you breathe, air passes through your nose and mouth into your windpipe. The air then travels to your lungs' air sacs. These sacs are called alveoli (al-VEE-uhl-eye).
Small blood vessels called capillaries (KAP-ih-lare-ees) run through the walls of the air sacs. When air reaches the air sacs, oxygen passes through the air sac walls into the blood in the capillaries. At the same time, carbon dioxide moves from the capillaries into the air sacs. This process is called gas exchange.
In people who have OHS, poor breathing prevents proper gas exchange. As a result, the level of carbon dioxide in the blood rises. Also, the level of oxygen in the blood drops.
These changes can lead to serious health problems, such as leg edema (e-DE-mah), pulmonary hypertension (PULL-mun-ary HI-per-TEN-shun), cor pulmonale (pul-meh-NAL-e), and secondary erythrocytosis (eh-RITH-ro-si-TOE-sis). If left untreated, OHS can even be fatal.
The cause of OHS isn't fully known. Researchers think that several factors may work together to cause the disorder.
Many people who have OHS also have obstructive sleep apnea. Obstructive sleep apnea is a common disorder in which the airway collapses or is blocked during sleep. This causes pauses in breathing or shallow breaths while you sleep.
Obstructive sleep apnea disrupts your sleep and causes you to feel very tired during the day. (For more information, go to the Health Topics Sleep Apnea article.)
Outlook
Doctors treat OHS in a number of ways. One way is with positive airway pressure (PAP) machines, which are used during sleep.
PAP therapy uses mild air pressure to keep your airways open. Your doctor might recommend CPAP (continuous positive airway pressure) or BiPAP (bilevel positive airway pressure).
If your doctor prescribes PAP therapy, you'll work with someone from a home equipment provider to select a CPAP or BiPAP machine. The home equipment provider will help you select a machine based on your prescription and the features that meet your needs.
Other treatments for OHS include ventilator (VEN-til-a-tor) support and medicines. (A ventilator is a machine that supports breathing.)
OHS occurs with obesity, so your doctor will likely recommend weight loss as part of your treatment plan. Successful weight loss often involves setting goals and making lifestyle changes, such as following a healthy diet and being physically active.
OHS can lead to other serious health problems, so following your treatment plan is important. Your health care team, home equipment provider, and family can help you manage your treatment. | [
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What are the treatments for Pigmented villonodular synovitis ? | How might pigmented villonodular synovitis be treated? Pigmented villonodular synovitis is first treated with surgery to remove as much of the abnormal tissue growth as possible. The type of surgery depends on the location and extent of the disease within the joint. Radiation therapy is sometimes used to treat this condition if surgery is not an option, or if the condition returns (recurs) after an initial surgery. | [
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what research (or clinical trials) is being done for Tabes Dorsalis ? | The NINDS supports and conducts research on neurodegenerative disorders, such as tabes dorsalis, in an effort to find ways to prevent, treat, and, ultimately, cure these disorders. | [
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What are the symptoms of Holoprosencephaly, recurrent infections, and monocytosis ? | What are the signs and symptoms of Holoprosencephaly, recurrent infections, and monocytosis? The Human Phenotype Ontology provides the following list of signs and symptoms for Holoprosencephaly, recurrent infections, and monocytosis. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormal facial shape - Abnormality of the pinna - Agenesis of corpus callosum - Autosomal dominant inheritance - Brachycephaly - Brachydactyly syndrome - Cryptorchidism - Epicanthus - Failure to thrive - Holoprosencephaly - Intellectual disability, progressive - Intellectual disability, severe - Inverted nipples - Microcephaly - Micropenis - Monocytosis - Recurrent infections - Recurrent skin infections - Short finger - Short toe - Sloping forehead - Tapered finger - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common. | [
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Is Wolfram syndrome inherited ? | When Wolfram syndrome is caused by mutations in the WFS1 gene, it is inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition. Some studies have shown that people who carry one copy of a WFS1 gene mutation are at increased risk of developing individual features of Wolfram syndrome or related features, such as type 2 diabetes, hearing loss, or psychiatric illness. However, other studies have found no increased risk in these individuals. Wolfram syndrome caused by mutations in the CISD2 gene is also inherited in an autosomal recessive pattern. | [
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What causes Stiff person syndrome ? | What causes stiff person syndrome? Scientists dont yet understand what causes stiff person syndrome, but research indicates that it is the result of an abnormal autoimmune response in the brain and spinal cord. Most people with stiff person syndrome have antibodies to glutamic acid decarboxylase (GAD), a protein in some nerve cells involved in making a substance called gamma-aminobutyric acid (GABA) that helps to control muscle movement. The symptoms of stiff person syndrome may develop when the immune system mistakenly attacks the neurons that produce GAD, leading to a deficiency of this protein in the body. The exact role that deficiency of GAD plays in the development of stiff person syndrome is not fully understood. | [
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What are the symptoms of Nephrosis deafness urinary tract digital malformation ? | What are the signs and symptoms of Nephrosis deafness urinary tract digital malformation? The Human Phenotype Ontology provides the following list of signs and symptoms for Nephrosis deafness urinary tract digital malformation. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Conductive hearing impairment 90% Nephrotic syndrome 90% Abnormality of the ureter 50% Cleft palate 50% Hematuria 50% Hypertension 50% Proteinuria 50% Abnormal localization of kidney 7.5% Abnormality of lipid metabolism 7.5% Renal insufficiency 7.5% Bifid distal phalanx of the thumb - Bifid uvula - Hearing impairment - Partial duplication of the distal phalanx of the hallux - Short distal phalanx of hallux - Short distal phalanx of the thumb - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common. | [
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What is (are) Lung Cancer ? | Lung cancer occurs when malignant tumors form in the tissue of the lung. The lungs are a pair of sponge-like organs. The right lung has three sections, called lobes, and is larger than the left lung, which has two lobes. | [
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What is (are) Primary carnitine deficiency ? | Primary carnitine deficiency is a genetic condition that prevents the body from using certain fats for energy, particularly during periods without food (fasting). The nature and severity of signs and symptoms may vary, but they most often appear during infancy or early childhood and can include severe brain dysfunction (encephalopathy), cardiomyopathy, confusion, vomiting, muscle weakness, and hypoglycemia. Some individuals may only have fatigability in adulthood, or no symptoms at all. This condition is caused by mutations in the SLC22A5 gene and is inherited in an autosomal recessive manner. Treatment and prevention of symptoms typically includes oral L-carnitine supplementation. | [
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What are the genetic changes related to North American Indian childhood cirrhosis ? | North American Indian childhood cirrhosis results from at least one known mutation in the UTP4 gene. This gene provides instructions for making a protein called cirhin, whose precise function is unknown. Within cells, cirhin is located in a structure called the nucleolus, which is a small region inside the nucleus where ribosomal RNA (rRNA) is produced. A chemical cousin of DNA, rRNA is a molecule that helps assemble protein building blocks (amino acids) into functioning proteins. Researchers believe that cirhin may play a role in processing rRNA. Studies also suggest that cirhin may function by interacting with other proteins. Cirhin is found in many different types of cells, so it is unclear why the effects of North American Indian childhood cirrhosis appear to be limited to the liver. Researchers are working to determine how a UTP4 gene mutation causes the progressive liver damage characteristic of this disorder. | [
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What are the symptoms of Myofibrillar myopathy ? | What are the signs and symptoms of Myofibrillar myopathy? Myofibrillar myopathy (MFM) primarily affects skeletal muscles, which are muscles that the body uses for movement. In some cases, the heart (cardiac) muscle is also affected. The signs and symptoms of MFM vary widely among affected individuals, typically depending on the condition's genetic cause. Most people with this disorder begin to develop muscle weakness (myopathy) in mid-adulthood. However, features of this condition can appear anytime between infancy and late adulthood. Muscle weakness most often begins in the hands and feet (distal muscles), but some people first experience weakness in the muscles near the center of the body (proximal muscles). Other affected individuals develop muscle weakness throughout their body. Facial muscle weakness can cause swallowing and speech difficulties. Muscle weakness worsens over time. Other signs and symptoms of MFM can include a weakened heart muscle (cardiomyopathy), muscle pain (myalgia), loss of sensation and weakness in the limbs (peripheral neuropathy), and respiratory failure. Individuals with this condition may have skeletal problems including joint stiffness (contractures) and abnormal side-to-side curvature of the spine (scoliosis). Rarely, people with this condition develop clouding of the front surface of the eyes (cataracts). The Human Phenotype Ontology provides the following list of signs and symptoms for Myofibrillar myopathy. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Arrhythmia - Autosomal dominant inheritance - Autosomal recessive inheritance - Bulbar palsy - Constipation - Diarrhea - Dilated cardiomyopathy - Distal muscle weakness - EMG: myopathic abnormalities - Facial palsy - Hypertrophic cardiomyopathy - Hyporeflexia of lower limbs - Late-onset proximal muscle weakness - Neck muscle weakness - Phenotypic variability - Respiratory insufficiency due to muscle weakness - Restrictive heart failure - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common. | [
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