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outlook | What is the outlook for Klippel-Trenaunay Syndrome (KTS) ? | KTS is often a progressive disorder, and complications may be life-threatening. However, many individuals can live well while managing their symptoms. |
research | what research (or clinical trials) is being done for Klippel-Trenaunay Syndrome (KTS) ? | The NINDS supports research on congenital disorders such as KTS with the goal of finding new means to treat and prevent them. |
information | What is Periventricular Leukomalacia ? | Periventricular leukomalacia (PVL) is characterized by the death of the white matter of the brain due to softening of the brain tissue. It can affect fetuses or newborns; premature babies are at the greatest risk of the disorder. PVL is caused by a lack of oxygen or blood flow to the periventricular area of the brain, which results in the death or loss of brain tissue. The periventricular area-the area around the spaces in the brain called ventricles-contains nerve fibers that carry messages from the brain to the body's muscles. Although babies with PVL generally have no outward signs or symptoms of the disorder, they are at risk for motor disorders, delayed mental development, coordination problems, and vision and hearing impairments. PVL may be accompanied by a hemorrhage or bleeding in the periventricular-intraventricular area (the area around and inside the ventricles), and can lead to cerebral palsy. The disorder is diagnosed by ultrasound of the head. |
treatment | What are the treatments for Periventricular Leukomalacia ? | There is no specific treatment for PVL. Treatment is symptomatic and supportive. Children with PVL should receive regular medical screenings to determine appropriate interventions. |
outlook | What is the outlook for Periventricular Leukomalacia ? | The prognosis for individuals with PVL depends upon the severity of the brain damage. Some children exhibit fairly mild symptoms, while others have significant deficits and disabilities. |
research | what research (or clinical trials) is being done for Periventricular Leukomalacia ? | The NINDS supports and conducts research on brain injuries such as PVL. Much of this research is aimed at finding ways to prevent and treat these disorders. |
information | What is Brown-Sequard Syndrome ? | Brown-Sequard syndrome (BSS) is a rare neurological condition characterized by a lesion in the spinal cord which results in weakness or paralysis (hemiparaplegia) on one side of the body and a loss of sensation (hemianesthesia) on the opposite side. BSS may be caused by a spinal cord tumor, trauma (such as a puncture wound to the neck or back), ischemia (obstruction of a blood vessel), or infectious or inflammatory diseases such as tuberculosis, or multiple sclerosis. |
treatment | What are the treatments for Brown-Sequard Syndrome ? | Generally treatment for individuals with BSS focuses on the underlying cause of the disorder. Early treatment with high-dose steroids may be beneficial in many cases. Other treatment is symptomatic and supportive. |
outlook | What is the outlook for Brown-Sequard Syndrome ? | The prognosis for individuals with BSS varies depending on the cause of the disorder. |
research | what research (or clinical trials) is being done for Brown-Sequard Syndrome ? | The NINDS supports and conducts a wide range of research on spinal cord disorders such as BSS. The goal of this research is to find ways to prevent, treat, and, ultimately, cure these disorders. |
information | What is Neurological Sequelae Of Lupus ? | Lupus (also called systemic lupus erythematosus) is a disorder of the immune system. Normally, the immune system protects the body against invading infections and cancers. In lupus, the immune system is over-active and produces increased amounts of abnormal antibodies that attack the body's tissues and organs. Lupus can affect many parts of the body, including the joints, skin, kidneys, lungs, heart, nervous system, and blood vessels. The signs and symptoms of lupus differ from person to person; the disease can range from mild to life threatening.
Initial symptoms of lupus may begin with a fever, vascular headaches, epilepsy, or psychoses. A striking feature of lupus is a butterfly shaped rash over the cheeks. In addition to headache, lupus can cause other neurological disorders, such as mild cognitive dysfunction, organic brain syndrome, peripheral neuropathies, sensory neuropathy, psychological problems (including personality changes, paranoia, mania, and schizophrenia), seizures, transverse myelitis, and paralysis and stroke. |
treatment | What are the treatments for Neurological Sequelae Of Lupus ? | There is no cure for lupus. Treatment is symptomatic. With a combination of medication, rest, exercise, proper nutrition, and stress management, most individuals with lupus can often achieve remission or reduce their symptom levels. Medications used in the treatment of lupus may include aspirin and other nonsteroidal anti-inflammatory medications, antimalarials, corticosteroids, and immunosuppressive drugs. |
outlook | What is the outlook for Neurological Sequelae Of Lupus ? | The prognosis for lupus varies widely depending on the organs involved and the intensity of the inflammatory reaction. The course of lupus is commonly chronic and relapsing, often with long periods of remission. Most individuals with lupus do not develop serious health problems and have a normal lifespan with periodic doctor visits and treatments with various drugs. |
research | what research (or clinical trials) is being done for Neurological Sequelae Of Lupus ? | Investigators researching lupus seek to increase scientific understanding of the disorder and to find ways to treat, prevent, and ultimately, cure it. Several components of the National Institutes of Health support research on lupus. |
information | What is Generalized Gangliosidoses ? | The gangliosidoses are a group of inherited metabolic diseases caused by a deficiency of the different proteins needed to break down fatty substances called lipids. Excess buildup of these fatty materials (oils, waxes, steroids, and other compounds) can cause permanent damage in the cells and tissues in the brain and nervous systems, particularly in nerve cells. There are two distinct groups of the gangliosidoses, which affect males and females equally.
The GM1 gangliosidoses are caused by a deficiency of the enzyme beta-galactosidase. Signs of early infantile GM1 gangliodisosis (the most severe subtype, with onset shortly after birth) may include neurodegeneration, seizures, liver and spleen enlargement, coarsening of facial features, skeletal irregularities, joint stiffness, distended abdomen, muscle weakness, exaggerated startle response, and problems with gait. About half of affected persons develop cherry-red spots in the eye. Children may be deaf and blind by age 1.Onset of late infantile GM1 gangliosidosisis typically between ages 1 and 3 years. Signs include an inability to control movement, seizures, dementia, and difficulties with speech. Adult GM1 gangliosidosis strikes between ages 3 and 30, with symptoms that include the wasting away of muscles, cloudiness in the corneas, and dystonia (sustained moscle contractions that case twisting and repetitive movements or abnormal postures). Non-cancerous skin blemishes may develop on the lower part of the trunk of the body. Adult GM1 is usually less severe and progresses more slowly than other forms of the disorder.
The GM2 gangliosidoses include Tay-Sachs disease and its more severe form, called Sandhoff disease, both of whichresult from a deficiency of the enzyme beta-hexosaminidase. Symptoms begin by age 6 months and include progressive mental deterioration, cherry-red spots in the retina, marked startle reflex, and seizures. Children with Tay-Sachs may also have dementia, progressive loss of hearing, some paralysis, and difficulty in swallowing that may require a feeding tube. A rarer form of the disorder, which occurs in individuals in their twenties and early thirties, is characterized by an unsteady gait and progressive neurological deterioration. Additional signs of Sandhoff disease include weakness in nerve signaling that causes muscles to contract, early blindness, spasticity, muscle contractions, an abnormally enlarged head, and an enlarged liver and spleen. |
treatment | What are the treatments for Generalized Gangliosidoses ? | No specific treatment exists for the gangliosidoses. Anticonvulsants may initially control seizures. Other supportive treatment includes proper nutrition and hydration and keeping the airway open. |
outlook | What is the outlook for Generalized Gangliosidoses ? | Children with early infantile GM1 often die by age 3 from cardiac complications or pneumonia. Children with the early-onset form of Tay-Sachs disease may eventually need a feeding tube and often die by age 4 from recurring infection. Children with Sandhoff disease generally die by age 3 from respiratory infections. |
research | what research (or clinical trials) is being done for Generalized Gangliosidoses ? | The mission of the National Institute of Neurological Disorders and Stroke (NINDS) is to seek fundamental knowledge about the brain and nervous system and to use that knowledge to reduce the burden of neurological disease. The NINDS is a part of the National Institutes of Health (NIH), the largest supporter of biomedical research in the world. Scientists are studying the mechanisms by which the lipids accumulating in these disorders cause harm to the body. NINDS-funded research on the gangliosidoses also includes using variations of magnetic resonance imaging to develop a biomarker (a sign that may indicate risk of a disease and improve diagnosis) to effectively evaluate brain chemistry and disease progression, and expanding the use of virus-delivered gene therapy seen in an animal model of Tay-Sachs and Sandhoff diseases for use in humans. |
information | What is Paroxysmal Hemicrania ? | Paroxysmal hemicrania is a rare form of headache that usually begins in adulthood. Patients experience severe throbbing, claw-like, or boring pain usually on one side of the face; in, around, or behind the eye; and occasionally reaching to the back of the neck. This pain may be accompanied by red and tearing eyes, a drooping or swollen eyelid on the affected side of the face, and nasal congestion. Patients may also feel dull pain, soreness, or tenderness between attacks. Attacks of paroxysmal hemicrania typically occur from 5 to 40 times per day and last 2 to 30 minutes. The disorder has two forms: chronic, in which patients experience attacks on a daily basis for a year or more, and episodic, in which the headaches may remit for months or years. Certain movements of the head or neck or external pressure to the neck may trigger these headaches in some patients. The disorder is more common in women than in men. |
treatment | What are the treatments for Paroxysmal Hemicrania ? | The nonsteroidal anti-inflammatory drug (NSAID) indomethacin often provides complete relief from symptoms. Other less effective NSAIDs, calcium-channel blocking drugs (such as verapamil), and corticosteroids may be used to treat the disorder. Patients with both paroxysmal hemicrania and trigeminal neuralgia (a condition of the 5th cranial nerve that causes sudden, severe pain typically felt on one side of the jaw or cheek) should receive treatment for each disorder. |
outlook | What is the outlook for Paroxysmal Hemicrania ? | Many patients experience complete to near-complete relief of symptoms following physician-supervised medical treatment. Paroxysmal hemicrania may last indefinitely but has been known to go into remission or stop spontaneously. |
research | what research (or clinical trials) is being done for Paroxysmal Hemicrania ? | The National Institute of Neurological Disorders and Stroke (NINDS) and other institutes of the National Institutes of Health (NIH) support research related to paroxysmal hemicrania through grants to major medical institutions across the country. Much of this research focuses on finding better ways to prevent, treat, and ultimately cure headache disorders such as paroxysmal hemicrania. |
information | What is Myopathy ? | The myopathies are neuromuscular disorders in which the primary symptom is muscle weakness due to dysfunction of muscle fiber. Other symptoms of myopathy can include include muscle cramps, stiffness, and spasm. Myopathies can be inherited (such as the muscular dystrophies) or acquired (such as common muscle cramps). Myopathies are grouped as follows: congenital myopathies: characterized by developmental delays in motor skills; skeletal and facial abnormalities are occasionally evident at birth muscular dystrophies: characterized by progressive weakness in voluntary muscles; sometimes evident at birth mitochondrial myopathies: caused by genetic abnormalities in mitochondria, cellular structures that control energy; include Kearns-Sayre syndrome, MELAS and MERRF glycogen storage diseases of muscle: caused by mutations in genes controlling enzymes that metabolize glycogen and glucose (blood sugar); include Pompe's, Andersen's and Cori's diseases myoglobinurias: caused by disorders in the metabolism of a fuel (myoglobin) necessary for muscle work; include McArdle, Tarui, and DiMauro diseases dermatomyositis: an inflammatory myopathy of skin and muscle myositis ossificans: characterized by bone growing in muscle tissue familial periodic paralysis: characterized by episodes of weakness in the arms and legs polymyositis, inclusion body myositis, and related myopathies: inflammatory myopathies of skeletal muscle neuromyotonia: characterized by alternating episodes of twitching and stiffness; and stiff-man syndrome: characterized by episodes of rigidity and reflex spasms common muscle cramps and stiffness, and tetany: characterized by prolonged spasms of the arms and legs |
treatment | What are the treatments for Myopathy ? | Treatments for the myopathies depend on the disease or condition and specific causes. Supportive and symptomatic treatment may be the only treatment available or necessary for some disorders. Treatment for other disorders may include drug therapy, such as immunosuppressives, physical therapy, bracing to support weakened muscles, and surgery. |
outlook | What is the outlook for Myopathy ? | The prognosis for individuals with a myopathy varies. Some individuals have a normal life span and little or no disability. For others, however, the disorder may be progressive, severely disabling, life-threatening, or fatal. |
research | what research (or clinical trials) is being done for Myopathy ? | The NINDS supports and conducts an extensive research program on neuromuscular disorders such as the myopathies. Much of this research is aimed at increasing scientific understanding of these disorders, and finding ways to prevent, treat, and cure them. |
information | What is Troyer Syndrome ? | Troyer syndrome is one of more than 40 genetically-distinct neurological disorders known collectively as the hereditary spastic paraplegias. These disorders are characterized by their paramount feature of progressive muscle weakness and spasticity in the legs. Additional symptoms of Troyer syndrome (also called SPG20) include leg contractures, difficulty walking, speech disorders, drooling, atrophy of the hand muscles, developmental delays, fluctuating emotions, and short stature. Onset is typically in early childhood, and symptoms gradually worsen over time. Troyer syndrome is an autosomal recessive disorder (meaning that both parents must carry and pass on the defective gene that produces the illness) that results from a mutation in the spastic paraplegia gene (SPGP20) located in chromosome 13 that results in loss of the spartin proteins. The disease was first observed in Amish families in Ohio. Diagnosis is made by specialized genetic testing. |
treatment | What are the treatments for Troyer Syndrome ? | There are no specific treatments to prevent or slow the progressive degeneration seen in Troyer syndrome. Symptomatic therapy includes antispasmodic drugs and physical therapy to improve muscle strength and maintain range of motion in the legs. Assistive devices may be needed to help with walking. |
outlook | What is the outlook for Troyer Syndrome ? | Prognosis varies, although the disease is progressive. Some patients may have a mild form of the disease while others eventually lose the ability to walk normally. Troyer syndrome does not shorten the normal life span. |
research | what research (or clinical trials) is being done for Troyer Syndrome ? | The NINDS supports research on genetic disorders such as the hereditary spastic paraplegias. A gene for Troyer syndrome has been identified and others may be identified in the future. Understanding how these genes cause Troyer syndrome and the hereditary spastic paraplegias in general will lead to ways to prevent, treat, and cure these disorders. |
information | What is Stroke ? | A stroke occurs when the blood supply to part of the brain is suddenly interrupted or when a blood vessel in the brain bursts, spilling blood into the spaces surrounding brain cells. Brain cells die when they no longer receive oxygen and nutrients from the blood or there is sudden bleeding into or around the brain. The symptoms of a stroke include sudden numbness or weakness, especially on one side of the body; sudden confusion or trouble speaking or understanding speech; sudden trouble seeing in one or both eyes; sudden trouble with walking, dizziness, or loss of balance or coordination; or sudden severe headache with no known cause. There are two forms of stroke: ischemic - blockage of a blood vessel supplying the brain, and hemorrhagic - bleeding into or around the brain. |
treatment | What are the treatments for Stroke ? | Generally there are three treatment stages for stroke: prevention, therapy immediately after the stroke, and post-stroke rehabilitation. Therapies to prevent a first or recurrent stroke are based on treating an individual's underlying risk factors for stroke, such as hypertension, atrial fibrillation, and diabetes. Acute stroke therapies try to stop a stroke while it is happening by quickly dissolving the blood clot causing an ischemic stroke or by stopping the bleeding of a hemorrhagic stroke. Post-stroke rehabilitation helps individuals overcome disabilities that result from stroke damage. Medication or drug therapy is the most common treatment for stroke. The most popular classes of drugs used to prevent or treat stroke are antithrombotics (antiplatelet agents and anticoagulants) and thrombolytics. |
outlook | What is the outlook for Stroke ? | Although stroke is a disease of the brain, it can affect the entire body. A common disability that results from stroke is complete paralysis on one side of the body, called hemiplegia. A related disability that is not as debilitating as paralysis is one-sided weakness or hemiparesis. Stroke may cause problems with thinking, awareness, attention, learning, judgment, and memory. Stroke survivors often have problems understanding or forming speech. A stroke can lead to emotional problems. Stroke patients may have difficulty controlling their emotions or may express inappropriate emotions. Many stroke patients experience depression. Stroke survivors may also have numbness or strange sensations. The pain is often worse in the hands and feet and is made worse by movement and temperature changes, especially cold temperatures.
Recurrent stroke is frequent; about 25 percent of people who recover from their first stroke will have another stroke within 5 years. |
research | what research (or clinical trials) is being done for Stroke ? | The National Institute of Neurological Disorders and Stroke (NINDS) conducts stroke research and clinical trials at its laboratories and clinics at the National Institutes of Health (NIH), and through grants to major medical institutions across the country. Currently, NINDS researchers are studying the mechanisms of stroke risk factors and the process of brain damage that results from stroke. Basic research has also focused on the genetics of stroke and stroke risk factors. Scientists are working to develop new and better ways to help the brain repair itself to restore important functions. New advances in imaging and rehabilitation have shown that the brain can compensate for function lost as a result of stroke. |
information | What is Parkinson's Disease ? | Parkinson's disease (PD) belongs to a group of conditions called motor system disorders, which are the result of the loss of dopamine-producing brain cells. The four primary symptoms of PD are tremor, or trembling in hands, arms, legs, jaw, and face; rigidity, or stiffness of the limbs and trunk; bradykinesia, or slowness of movement; and postural instability, or impaired balance and coordination. As these symptoms become more pronounced, patients may have difficulty walking, talking, or completing other simple tasks. PD usually affects people over the age of 60. Early symptoms of PD are subtle and occur gradually. In some people the disease progresses more quickly than in others. As the disease progresses, the shaking, or tremor, which affects the majority of people with PD may begin to interfere with daily activities. Other symptoms may include depression and other emotional changes; difficulty in swallowing, chewing, and speaking; urinary problems or constipation; skin problems; and sleep disruptions. There are currently no blood or laboratory tests that have been proven to help in diagnosing sporadic PD. Therefore the diagnosis is based on medical history and a neurological examination. The disease can be difficult to diagnose accurately. Doctors may sometimes request brain scans or laboratory tests in order to rule out other diseases. |
treatment | What are the treatments for Parkinson's Disease ? | At present, there is no cure for PD, but a variety of medications provide dramatic relief from the symptoms. Usually, affected individuals are given levodopa combined with carbidopa. Carbidopa delays the conversion of levodopa into dopamine until it reaches the brain. Nerve cells can use levodopa to make dopamine and replenish the brain's dwindling supply. Although levodopa helps at least three-quarters of parkinsonian cases, not all symptoms respond equally to the drug. Bradykinesia and rigidity respond best, while tremor may be only marginally reduced. Problems with balance and other symptoms may not be alleviated at all. Anticholinergics may help control tremor and rigidity. Other drugs, such as bromocriptine, pramipexole, and ropinirole, mimic the role of dopamine in the brain, causing the neurons to react as they would to dopamine. An antiviral drug, amantadine, also appears to reduce symptoms. In May 2006, the FDA approved rasagiline to be used along with levodopa for patients with advanced PD or as a single-drug treatment for early PD.
In some cases, surgery may be appropriate if the disease doesn't respond to drugs. A therapy called deep brain stimulation (DBS) has now been approved by the U.S. Food and Drug Administration. In DBS, electrodes are implanted into the brain and connected to a small electrical device called a pulse generator that can be externally programmed. DBS can reduce the need for levodopa and related drugs, which in turn decreases the involuntary movements called dyskinesias that are a common side effect of levodopa. It also helps to alleviate fluctuations of symptoms and to reduce tremors, slowness of movements, and gait problems. DBS requires careful programming of the stimulator device in order to work correctly. |
outlook | What is the outlook for Parkinson's Disease ? | PD is both chronic, meaning it persists over a long period of time, and progressive, meaning its symptoms grow worse over time. Although some people become severely disabled, others experience only minor motor disruptions. Tremor is the major symptom for some individuals, while for others tremor is only a minor complaint and other symptoms are more troublesome. It is currently not possible to predict which symptoms will affect an individual, and the intensity of the symptoms also varies from person to person. |
research | what research (or clinical trials) is being done for Parkinson's Disease ? | The National Institute of Neurological Disorders and Stroke (NINDS) conducts PD research in laboratories at the National Institutes of Health (NIH) and also supports additional research through grants to major medical institutions across the country. Current research programs funded by the NINDS are using animal models to study how the disease progresses and to develop new drug therapies. Scientists looking for the cause of PD continue to search for possible environmental factors, such as toxins, that may trigger the disorder, and study genetic factors to determine how defective genes play a role. Other scientists are working to develop new protective drugs that can delay, prevent, or reverse the disease.
http://www.ninds.nih.gov/research/parkinsonsweb/index.htm |
information | What is Melkersson-Rosenthal Syndrome ? | Melkersson-Rosenthal syndrome is a rare neurological disorder characterized by recurring facial paralysis, swelling of the face and lips (usually the upper lip), and the development of folds and furrows in the tongue. Onset is in childhood or early adolescence. After recurrent attacks (ranging from days to years in between), swelling may persist and increase, eventually becoming permanent. The lip may become hard, cracked, and fissured with a reddish-brown discoloration. The cause of Melkersson-Rosenthal syndrome is unknown, but there may be a genetic predisposition. It can be symptomatic of Crohn's disease or sarcoidosis. |
treatment | What are the treatments for Melkersson-Rosenthal Syndrome ? | Treatment is symptomatic and may include medication therapies with nonsteroidal anti-inflammatory drugs (NSAIDs) and corticosteroids to reduce swelling, as well as antibiotics and immunosuppressants. Surgery may be recommended to relieve pressure on the facial nerves and to reduce swollen tissue, but its effectiveness has not been established. Massage and electrical stimulation may also be prescribed. |
outlook | What is the outlook for Melkersson-Rosenthal Syndrome ? | Melkersson-Rosenthal syndrome may recur intermittently after its first appearance. It can become a chronic disorder. Follow-up care should exclude the development of Crohn's disease or sarcoidosis. |
research | what research (or clinical trials) is being done for Melkersson-Rosenthal Syndrome ? | The NINDS supports research on neurological disorders such as Melkersson-Rosenthal syndrome. Much of this research is aimed at increasing knowledge of these disorders and finding ways to treat, prevent, and ultimately cure them. |
information | What is Sjgren's Syndrome ? | Sjgren's syndrome is an autoimmune disorder in which immune cells attack and destroy the glands that produce tears and saliva. Sjgren's syndrome is also associated with rheumatic disorders such as rheumatoid arthritis. The hallmark symptoms of the disorder are dry mouth and dry eyes. In addition, Sjogren's syndrome may cause skin, nose, and vaginal dryness, and may affect other organs of the body including the kidneys, blood vessels, lungs, liver, pancreas, and brain. Sjgren's syndrome affects 1-4 million people in the United States. Most people are more than 40 years old at the time of diagnosis. Women are 9 times more likely to have Sjgren's syndrome than men. |
treatment | What are the treatments for Sjgren's Syndrome ? | There is no known cure for Sjgren's syndrome nor is there a specific treatment to restore gland secretion. Treatment is generally symptomatic and supportive. Moisture replacement therapies may ease the symptoms of dryness. Nonsteroidal anti-inflammatory drugs may be used to treat musculoskeletal symptoms. For individuals with severe complications, corticosteroids or immunosuppressive drugs may be prescribed. |
outlook | What is the outlook for Sjgren's Syndrome ? | Sjgren's syndrome can damage vital organs of the body with symptoms that may remain stable, worsen, or go into remission. Some people may experience only the mild symptoms of dry eyes and mouth, while others go through cycles of good health followed by severe disease. Many patients are able to treat problems symptomatically. Others are forced to cope with blurred vision, constant eye discomfort, recurrent mouth infections, swollen parotid glands, hoarseness, and difficulty in swallowing and eating. Debilitating fatigue and joint pain can seriously impair quality of life. |
research | what research (or clinical trials) is being done for Sjgren's Syndrome ? | The goals of research on disorders such as Sjgren's syndrome focus on increasing knowledge and understanding of the disorder, improving diagnostic techniques, testing interventions, and finding ways to treat, prevent, and cure the disease. |
information | What is Hydranencephaly ? | Hydranencephaly is a rare condition in which the brain's cerebral hemispheres are absent and replaced by sacs filled with cerebrospinal fluid. An infant with hydranencephaly may appear normal at birth. The infant's head size and spontaneous reflexes such as sucking, swallowing, crying, and moving the arms and legs may all seem normal. However, after a few weeks the infant usually becomes irritable and has increased muscle tone. After a few months of life, seizures and hydrocephalus (excessive accumulation of cerebrospinal fluid in the brain) may develop. Other symptoms may include visual impairment, lack of growth, deafness, blindness, spastic quadriparesis (paralysis), and intellectual deficits. Hydranencephaly is considered to be an extreme form of porencephaly (a rare disorder characterized by a cyst or cavity in the cerebral hemispheres) and may be caused by vascular infections or traumatic disorders after the 12th week of pregnancy. Diagnosis may be delayed for several months because early behavior appears to be relatively normal. Some infants may have additional abnormalities at birth including seizures, myoclonus (spasm or twitching of a muscle or group of muscles), and respiratory problems. |
treatment | What are the treatments for Hydranencephaly ? | There is no definitive treatment for hydranencephaly. Treatment is symptomatic and supportive. Hydrocephalus may be treated with a shunt (a surgically implanted tube that diverts fluid from one pathway to another). |
outlook | What is the outlook for Hydranencephaly ? | The outlook for children with hydranencephaly is generally poor, and many children with this disorder die before age 1. However, in rare cases, children with hydranencephaly may survive for several years or more. |
research | what research (or clinical trials) is being done for Hydranencephaly ? | The NINDS conducts and supports a wide range of studies that explore the complex mechanisms of normal brain development. The knowledge gained from these fundamental studies provides the foundation for understanding how this process can go awry and, thus, offers hope for new means to treat and prevent developmental brain disorders, including hydranencephaly. |
information | What is Progressive Multifocal Leukoencephalopathy ? | Progressive multifocal leukoencephalopathy (PML) is a disease of the white matter of the brain, caused by a virus infection that targets cells that make myelin--the material that insulates nerve cells (neurons). Polyomavirus JC (often called JC virus) is carried by a majority of people and is harmless except among those with lowered immune defenses. The disease is rare and occurs in patients undergoing chronic corticosteroid or immunosuppressive therapy for organ transplant, or individuals with cancer (such as Hodgkins disease or lymphoma). Individuals with autoimmune conditions such as multiple sclerosis, rheumatoid arthritis, and systemic lupus erythematosis -- some of whom are treated with biological therapies that allow JC virus reactivation -- are at risk for PML as well. PML is most common among individuals with HIV-1 infection / acquired immune deficiency syndrome (AIDS). Studies estimate that prior to effective antiretroviral therapy, as many as 5 percent of persons infected with HIV-1 eventually develop PML that is an AIDS-defining illness. However, current HIV therapy using antiretroviral drugs (ART), which effectively restores immune system function, allows as many as half of all HIV-PML patients to survive, although they may sometimes have an inflammatory reaction in the regions of the brain affected by PML. The symptoms of PML are diverse, since they are related to the location and amount of damage in the brain, and may evolve over the course of several weeks to months The most prominent symptoms are clumsiness; progressive weakness; and visual, speech, and sometimes personality changes. The progression of deficits leads to life-threatening disability and (frequently) death. A diagnosis of PML can be made following brain biopsy or by combining observations of a progressive course of the disease, consistent white matter lesions visible on a magnetic resonance imaging (MRI) scan, and the detection of the JC virus in spinal fluid. |
treatment | What are the treatments for Progressive Multifocal Leukoencephalopathy ? | Currently, the best available therapy is reversal of the immune-deficient state, since there are no effective drugs that block virus infection without toxicity. Reversal may be achieved by using plasma exchange to accelerate the removal of the therapeutic agents that put patients at risk for PML. In the case of HIV-associated PML, immediately beginning anti-retroviral therapy will benefit most individuals. Several new drugs that laboratory tests found effective against infection are being used in PML patients with special permission of the U.S. Food and Drug Administration. Hexadecyloxypropyl-Cidofovir (CMX001) is currently being studied as a treatment option for JVC because of its ability to suppress JVC by inhibiting viral DNA replication. |
outlook | What is the outlook for Progressive Multifocal Leukoencephalopathy ? | In general, PML has a mortality rate of 30-50 percent in the first few months following diagnosis but depends on the severity of the underlying disease and treatment received. Those who survive PML can be left with severe neurological disabilities. |
research | what research (or clinical trials) is being done for Progressive Multifocal Leukoencephalopathy ? | The National Institute of Neurological Disorders and Stroke (NINDS) and other institutes of the National Institutes of Health (NIH) conduct research related to PML in laboratories at the NIH, and support additional research through grants to majorresearch institutions across the country. Much of this research focuses on finding better ways to prevent, treat, and ultimately cure disorders such as PML. |
information | What is Williams Syndrome ? | Williams Syndrome (WS) is a rare genetic disorder characterized by mild to moderate delays in cognitive development or learning difficulties, a distinctive facial appearance, and a unique personality that combines over-friendliness and high levels of empathy with anxiety. The most significant medical problem associated with WS is cardiovascular disease caused by narrowed arteries. WS is also associated with elevated blood calcium levels in infancy. A random genetic mutation (deletion of a small piece of chromosome 7), rather than inheritance, most often causes the disorder. However, individuals who have WS have a 50 percent chance of passing it on if they decide to have children. The characteristic facial features of WS include puffiness around the eyes, a short nose with a broad nasal tip, wide mouth, full cheeks, full lips, and a small chin. People with WS are also likely to have a long neck, sloping shoulders, short stature, limited mobility in their joints, and curvature of the spine. Some individuals with WS have a star-like pattern in the iris of their eyes. Infants with WS are often irritable and colicky, with feeding problems that keep them from gaining weight. Chronic abdominal pain is common in adolescents and adults. By age 30, the majority of individuals with WS have diabetes or pre-diabetes and mild to moderate sensorineural hearing loss (a form of deafness due to disturbed function of the auditory nerve). For some people, hearing loss may begin as early as late childhood. WS also is associated with a characteristic cognitive profile of mental strengths and weaknesses composed of strengths in verbal short-term memory and language, combined with severe weakness in visuospatial construction (the skills used to copy patterns, draw, or write). Within language, the strongest skills are typically in concrete, practical vocabulary, which in many cases is in the low average to average range for the general population. Abstract or conceptual-relational vocabulary is much more limited. Most older children and adults with WS speak fluently and use good grammar. More than 50% of children with WS have attention deficit disorders (ADD or ADHD), and about 50% have specific phobias, such as a fear of loud noises. The majority of individuals with WS worry excessively. |
treatment | What are the treatments for Williams Syndrome ? | There is no cure for Williams syndrome, nor is there a standard course of treatment. Because WS is an uncommon and complex disorder, multidisciplinary clinics have been established at several centers in the United States . Treatments are based on an individuals particular symptoms. People with WS require regular cardiovascular monitoring for potential medical problems, such as symptomatic narrowing of the blood vessels, high blood pressure, and heart failure |
outlook | What is the outlook for Williams Syndrome ? | The prognosis for individuals with WS varies. Some degree of impaired intellect is found in most people with the disorder. Some adults are able to function independently, complete academic or vocational school, and live in supervised homes or on their own; most live with a caregiver. Parents can increase the likelihood that their child will be able to live semi-independently by teaching self-help skills early. Early intervention and individualized educational programs designed with the distinct cognitive and personality profiles of WS in mind also help individuals maximize their potential. Medical complications associated with the disorder may shorten the lifespans of some individuals with WS. |
research | what research (or clinical trials) is being done for Williams Syndrome ? | The National Institutes of Health (NIH), and the National Institute of Neurological Disorders and Stroke (NINDS), have funded many of the research studies exploring the genetic and neurobiological origins of WS. In the early 1990s, researchers located and identified the genetic mutation responsible for the disorder: the deletion of a small section of chromosome 7 that contains approximately 25 genes. NINDS continues to support WS researchers including, for example, groups that are attempting to link specific genes with the corresponding facial, cognitive, personality, and neurological characteristics of WS. |
information | What is Hypotonia ? | Hypotonia is a medical term used to describe decreased muscle tone. Normally, even when relaxed, muscles have a very small amount of contraction that gives them a springy feel and provides some resistance to passive movement. It is not the same as muscle weakness, although the two conditions can co-exist. Muscle tone is regulated by signals that travel from the brain to the nerves and tell the muscles to contract. Hypotonia can happen from damage to the brain, spinal cord, nerves, or muscles. The damage can be the result of trauma, environmental factors, or genetic, muscle, or central nervous system disorders. For example, it can be seen in Down syndrome, muscular dystrophy, cerebral palsy, Prader-Willi syndrome, myotonic dystrophy, and Tay-Sachs disease. Sometimes it may not be possible to find what causes the hypotonia. Infants with hypotonia have a floppy quality or rag doll appearance because their arms and legs hang by their sides and they have little or no head control. Other symptoms of hypotonia include problems with mobility and posture, breathing and speech difficulties, ligament and joint laxity, and poor reflexes. Hypotonia does not affect intellect. The opposite of hypotonia is hypertonia. |
treatment | What are the treatments for Hypotonia ? | Treatment begins with a thorough diagnostic evaluation, usually performed by a neurologist, including an assessment of motor and sensory skills, balance and coordination, mental status, reflexes, and functioning of the nerves. Diagnostic tests that may be helpful include a CT or MRI scan of the brain, an EMG to evaluate nerve and muscle function, or an EEG to measure electrical activity in the brain. Once a diagnosis has been made, the underlying condition is treated first, followed by symptomatic and supportive therapy for the hypotonia. Physical therapy can improve motor control and overall body strength. Occupational therapy can help relearn ways to address activities of daily living. Speech-language therapy can help breathing, speech, and swallowing difficulties. Therapy for infants and young children may also include sensory stimulation programs. |
outlook | What is the outlook for Hypotonia ? | Hypotonia can be a life-long condition. In some cases, however, muscle tone improves over time. |
research | what research (or clinical trials) is being done for Hypotonia ? | The NINDS supports research on conditions that can result from neurological disorders, such as hypotonia. Much of this research is aimed at learning more about these conditions and finding ways to prevent and treat them. |
information | What is Cushing's Syndrome ? | Cushing's syndrome, also called hypercortisolism, is a rare endocrine disorder caused by chronic exposure of the body's tissues to excess levels of cortisol - a hormone naturally produced by the adrenal gland. Exposure to too much cortisol can occur from long-term use of synthetic glucocorticoid hormones to treat inflammatory illnesses. Pituitary adenomas (benign tumors of the pituitary gland) that secrete increased amounts of ACTH (adrenocorticotropic hormone, a substance that controls the release of cortisol) can also spur overproduction of cortisol. Tumors of the adrenal gland and ectopic ACTH syndrome (a condition in which ACTH is produced by various types of potentially malignant tumors that occur in different parts of the body) can cause similar problems with cortisol balance. Common symptoms of Cushing's syndrome include upper body obesity, severe fatigue and muscle weakness, high blood pressure, backache, elevated blood sugar, easy bruising, and bluish-red stretch marks on the skin. In women, there may be increased growth of facial and body hair, and menstrual periods may become irregular or stop completely. Neurological symptoms include difficulties with memory and neuromuscular disorders. |
treatment | What are the treatments for Cushing's Syndrome ? | Treatment of Cushing's syndrome depends on the cause of excess cortisol. If the cause is long-term use of a medication being used to treat another disorder, the physician may reduce the dosage until symptoms are under control. Surgery or radiotherapy may be used to treat pituitary adenomas. Surgery, radiotherapy, chemotherapy, immunotherapy, or a combination of these may be used to treat ectopic ACTH syndrome. The aim of surgical treatment is to cure hypercortisolism by removing the tumor while minimizing the chance of endocrine deficiency or long-term dependence on medications. The U.S. Food and Drug Administration has approved pasireotide diasparate, taken by injection, for individuals who cannot be helped through surgery. |
outlook | What is the outlook for Cushing's Syndrome ? | The prognosis for those with Cushing's syndrome varies depending on the cause of the disease. Most cases of Cushing's syndrome can be cured. Many individuals with Cushing's syndrome show significant improvement with treatment, although some may find recovery complicated by various aspects of the causative illness. Some kinds of tumors may recur. |
research | what research (or clinical trials) is being done for Cushing's Syndrome ? | NINDS supports research on Cushing's syndrome aimed at finding new ways to diagnose, treat, and cure the disorder. |
information | What is Moyamoya Disease ? | Moyamoya disease is a rare, progressive cerebrovascular disorder caused by blocked arteries at the base of the brain in an area called the basal ganglia. The name moyamoya means puff of smoke in Japanese and describes the look of the tangle of tiny vessels formed to compensate for the blockage. Moyamoya disease was first described in Japan in the 1960s and it has since been found in individuals in the other countries around the world; its incidence is higher in Asian countries than in Europe or North America. The disease primarily affects children, but it can also occur in adults. In children, the first symptom of Moyamoya disease is often stroke, or recurrent transient ischemic attacks (TIA, commonly referred to as mini-strokes), frequently accompanied by muscular weakness or paralysis affecting one side of the body, or seizures. Adults may also experience these symptoms that arise from blocked arteries, but more often experience a hemorrhagic stroke due to bleeding into the brain from the abnormal brain vessels. Individuals with this disorder may have disturbed consciousness, problems with speaking and understanding speech, sensory and cognitive impairments, involuntary movements, and vision problems.About one in 10 individuals with Moyamoya disease has a close relative who is also affected; in these cases researchers think that Moyamoya disease is the result of inherited genetic abnormalities.Studies that look for the abnormal gene(s) may help reveal the biomechanisms that cause the disorder. |
treatment | What are the treatments for Moyamoya Disease ? | There are several types of surgery that can restore blood flow (revascularization) to the brain by opening narrowed blood vessels or by bypassing blocked arteries. Children usually respond better to revascularization surgery than adults, but the majority of individuals have no further strokes or related problems after surgery. |
outlook | What is the outlook for Moyamoya Disease ? | Without surgery, the majority of individuals with Moyamoya disease will experience mental decline and multiple strokes because of the progressive narrowing of arteries.Without treatment,Moyamoya diseasecan be fatal as the result ofintracerebral hemorrhage (bleeding within the brain). |
research | what research (or clinical trials) is being done for Moyamoya Disease ? | The mission of the National Institute of Neurological Disorders and Stroke (NINDS) is to seek fundamental knowledge about the brain and nervous system and to use that knowledge to reduce the burden of neurological disease. The NINDS conducts and supports neurological research aimed at understanding why diseases develop in the brain, and that focus on finding ways to prevent, treat, or cure them.Anti-angiogenic therapy uses drugs that either activate and promote cell growth or directly block the growing blood vessel cells. NINDS-funded researchers are testing the anti-angiogenic drug Apo-Timop, part of a class of drugs called beta-blockers, which may lead to the development of new anti-angiogenics for people with vascular malformations. In other research, Other NINDS-funded research hopes to improve the understanding of this disease by determining whether infections injure blood vessels and thereby predispose children to stroke. It will also determine causes of recurrence, a crucial step toward developing ways to prevent repeated strokes in children. |
information | What is Pituitary Tumors ? | The pituitary is a small, bean-sized gland that is below the hypothalamus, a structure at the base of the brain, by a thread-like stalk that contains both blood vessels and nerves. It controls a system of hormones in the body that regulate growth, metabolism, the stress response, and functions of the sex organs via the thyroid gland, adrenal gland, ovaries, and testes. A pituitary tumor is an abnormal growth of cells within the pituitary gland. Most pituitary tumors are benign, which means they are non-cancerous, grow slowly and do not spread to other parts of the body; however they can make the pituitary gland produce either too many or too few hormones, which can cause problems in the body. Tumors that make hormones are called functioning tumors, and they can cause a wide array of symptoms depending upon the hormone affected. Tumors that dont make hormones are called non-functioning tumors. Their symptoms are directly related to their growth in size and include headaches, vision problems, nausea, and vomiting. Diseases related to hormone abnormalities include Cushings disease, in which fat builds up in the face, back and chest, and the arms and legs become very thin; and acromegaly, a condition in which the hands, feet, and face are larger than normal. Pituitary hormones that impact the sex hormones, such as estrogen and testosterone, can make a woman produce breast milk even though she is not pregnant or nursing, or cause a man to lose his sex drive or lower his sperm count. Pituitary tumors often go undiagnosed because their symptoms resemble those of so many other more common diseases. |
treatment | What are the treatments for Pituitary Tumors ? | Generally, treatment depends on the type of tumor, the size of the tumor, whether the tumor has invaded or pressed on surrounding structures, such as the brain and visual pathways, and the individuals age and overall health. Three types of treatment are used: surgical removal of the tumor; radiation therapy, in which high-dose x-rays are used to kill the tumor cells; and drug therapy to shrink or destroy the tumor. Medications are also sometimes used to block the tumor from overproducing hormones. For some people, removing the tumor will also stop the pituitarys ability to produce a specific hormone. These individuals will have to take synthetic hormones to replace the ones their pituitary gland no longer produces. |
outlook | What is the outlook for Pituitary Tumors ? | If diagnosed early enough, the prognosis is usually excellent. If diagnosis is delayed, even a non-functioning tumor can cause problems if it grows large enough to press on the optic nerves, the brain, or the carotid arteries (the vessels that bring blood to the brain). Early diagnosis and treatment is the key to a good prognosis. |
research | what research (or clinical trials) is being done for Pituitary Tumors ? | The National Institute of Neurological Disorders and Stroke (NINDS) and other institutes of the National Institutes of Health (NIH) conduct research related to brain tumors, including pituitary tumors, in their laboratories at the NIH and also support research through grants to major medical institutions across the country. Much of this research focuses on finding better ways to prevent, treat, and ultimately cure pituitary tumors. |
information | What is Foot Drop ? | Foot drop describes the inability to raise the front part of the foot due to weakness or paralysis of the muscles that lift the foot. As a result, individuals with foot drop scuff their toes along the ground or bend their knees to lift their foot higher than usual to avoid the scuffing, which causes what is called a steppage gait. Foot drop can be unilateral (affecting one foot) or bilateral (affecting both feet). Foot drop is a symptom of an underlying problem and is either temporary or permanent, depending on the cause. Causes include: neurodegenerative disorders of the brain that cause muscular problems, such as multiple sclerosis, stroke, and cerebral palsy; motor neuron disorders such as polio, some forms of spinal muscular atrophy and amyotrophic lateral sclerosis (commonly known as Lou Gehrigs disease); injury to the nerve roots, such as in spinal stenosis; peripheral nerve disorders such as Charcot-Marie-Tooth disease or acquired peripheral neuropathy; local compression or damage to the peroneal nerve as it passes across the fibular bone below the knee; and muscle disorders, such as muscular dystrophy or myositis. |
treatment | What are the treatments for Foot Drop ? | Treatment depends on the specific cause of foot drop. The most common treatment is to support the foot with light-weight leg braces and shoe inserts, called ankle-foot orthotics. Exercise therapy to strengthen the muscles and maintain joint motion also helps to improve gait. Devices that electrically stimulate the peroneal nerve during footfall are appropriate for a small number of individuals with foot drop. In cases with permanent loss of movement, surgery that fuses the foot and ankle joint or that transfers tendons from stronger leg muscles is occasionally performed. |
outlook | What is the outlook for Foot Drop ? | The prognosis for foot drop depends on the cause. Foot drop caused by trauma or nerve damage usually shows partial or even complete recovery. For progressive neurological disorders, foot drop will be a symptom that is likely to continue as a lifelong disability, but it will not shorten life expectancy. |
research | what research (or clinical trials) is being done for Foot Drop ? | The National Institute of Neurological Disorders and Stroke (NINDS) conducts research related to the neurological conditions that cause foot drop in its laboratories at the National Institutes of Health (NIH), and also supports additional research through grants to major medical institutions across the country. Much of this research focuses on finding better ways to prevent, treat, and ultimately cure the kinds of neurological disorders that cause foot drop. |
information | What is Central Cord Syndrome ? | Central cord syndrome is the most common form of incomplete spinal cord injury characterized by impairment in the arms and hands and to a lesser extent in the legs. The brain's ability to send and receive signals to and from parts of the body below the site of injury is reduced but not entirely blocked. This syndrome is associated with damage to the large nerve fibers that carry information directly from the cerebral cortex to the spinal cord. These nerves are particularly important for hand and arm function. Symptoms may include paralysis or loss of fine control of movements in the arms and hands, with relatively less impairment of leg movements. Sensory loss below the site of the injury and loss of bladder control may also occur, as well as painful sensations such as tinging, burning, or dull ache. The overall amount and type of functional loss is dependent upon the severity of nerve damage. Central cord syndrome is usually the result of trauma that causes damage to the vertebrae in the neck or herniation of the vertebral discs. It also may develop in persons over the age of 50 due to gradual weakening of the vertebrae and discs, which narrows the spinal column and may contribute to compression of the spinal cord when the neck is hyper-extended. |
treatment | What are the treatments for Central Cord Syndrome ? | There is no cure for central cord syndrome although some people recover near-normal function. There is no standard course of treatment, although drug therapy, surgery, and rest are often part of the program. Magnetic resonance imaging (MRI) is used to indicate the degree of spinal cord compression and vertebral instability. Vertebral instability due to acute traumatic injury or cervical disc herniation is often treated by surgery to prevent further damage to the spinal cord. Recent reports indicate that earlier surgery may improve chances for recovery. Numerous recent studies suggest that surgery also can be beneficial in individuals with persistent compression of the spinal cord and ongoing neurological deterioration. |
outlook | What is the outlook for Central Cord Syndrome ? | The prognosis for central cord syndrome varies, but most people whose syndrome is caused by trauma have some recovery of neurological function. Evaluation of abnormal signals on MRI images can help predict he likelihood that neurological recovery may occur naturally. Those who receive medical intervention soon after their injury often have good outcomes. Many people with the disorder recover substantial function after their initial injury, and the ability to walk is recovered in most cases, although some impairment may remain. Improvement occurs first in the legs, then the bladder, and may be seen in the arms. Hand function recovers last, if at all. Recovery is generally better in younger patients, compared to those over the age of 50. |
research | what research (or clinical trials) is being done for Central Cord Syndrome ? | Our understanding of central cord syndrome has increased greatly in recent decades as a result of research funded conducted by the National Institute of Neurological Disorders and Stroke (NINDS). Much of this research focuses on finding better ways to prevent, treat, and ultimately cure neurological disorders such as central cord syndrome. |
information | What is Anencephaly ? | Anencephaly is a defect in the closure of the neural tube during fetal development. The neural tube is a narrow channel that folds and closes between the 3rd and 4th weeks of pregnancy to form the brain and spinal cord of the embryo. Anencephaly occurs when the "cephalic" or head end of the neural tube fails to close, resulting in the absence of a major portion of the brain, skull, and scalp. Infants with this disorder are born without a forebrain (the front part of the brain) and a cerebrum (the thinking and coordinating part of the brain). The remaining brain tissue is often exposed--not covered by bone or skin. A baby born with anencephaly is usually blind, deaf, unconscious, and unable to feel pain. Although some individuals with anencephaly may be born with a rudimentary brain stem, the lack of a functioning cerebrum permanently rules out the possibility of ever gaining consciousness. Reflex actions such as breathing and responses to sound or touch may occur.
The cause of anencephaly is unknown. Although it is thought that a mother's diet and vitamin intake may play a role, scientists believe that many other factors are also involved.
Recent studies have shown that the addition of folic acid (vitamin B9) to the diet of women of childbearing age may significantly reduce the incidence of neural tube defects. Therefore it is recommended that all women of childbearing age consume 0.4 mg of folic acid daily. |
treatment | What are the treatments for Anencephaly ? | There is no cure or standard treatment for anencephaly. Treatment is supportive. |
outlook | What is the outlook for Anencephaly ? | The prognosis for babies born with anencephaly is extremely poor. If the infant is not stillborn, then he or she will usually die within a few hours or days after birth. |
research | what research (or clinical trials) is being done for Anencephaly ? | Research supported by the NINDS includes studies to understand how the brain and nervous system normally develop. These studies contribute to a greater understanding of neural tube disorders, such as anencephaly, and open promising new avenues to treat and prevent neurological birth defects. |
information | What is Neurological Consequences of Cytomegalovirus Infection ? | Cytomegalovirus (CMV) is a virus found throughout the world that infects between 50 to 80 percent of all adults in the United States by the age of 40. CMV is in the same family of viruses that causes cold sores (herpes simplex virus), infectious mononucleosis (Epstein-Barr virus), and chickenpox/shingles (varicella zoster virus). Most people who acquire CVM as children or adults display no signs of illness or have mild symptoms such as fever, fatigue, or tender lymph nodes. People with a compromised immune system may have more severe forms of infection involving the nervous system.
A hallmark of CMV infection is that the virus cycles through periods of dormancy and active infection during the life of the individual Infected persons of any age periodically shed the virus in their body fluids, such as saliva, urine, blood, tears, semen, or breast milk. CMV is most commonly transmitted when infected body fluids come in contact with the mucous membranes of an uninfected person, but the virus can also pass from mother to fetus during pregnancy. |
treatment | What are the treatments for Neurological Consequences of Cytomegalovirus Infection ? | Since the virus remains in the person for life, there is no treatment to eliminate CMV infection. However, minimizing contact with infected body fluids can decrease the risk of viral transmission between individuals or from mother to fetus. Contact can be minimized by using gloves or other protective barriers when handling body fluids or contaminated materials (such as diapers or tissues), avoiding shared dishes, utensils, and other personal items, and consistent and thorough hand-washing.
Antiviral drugs (ganciclovir and others)can be used to prevent or control the symptoms of CMV infection in immunocompromised individuals or some infants with congenital infection. CMV immunoglobulin may also be used in some patients. Vaccines are in the development and human clinical trial stages, which shows that vaccines may help prevent initial CMV infection or decrease the severity of symptoms. |
outlook | What is the outlook for Neurological Consequences of Cytomegalovirus Infection ? | For most people CMV infection is not a problem. However, two groups of people are at high risk of neurological or other severe symptoms that may lead to long-term effects:
- Unborn infants whose mothers have CMV infection. CMVis the most common congenital infection in the U.S. Most infants will have no permanent health consequences, but a small number will have at birth or will develop long-term neurological conditions, such as hearing loss, visual impairment, seizures, or disabilities f mental or physical function. The highest risk of these severe effects on the fetus is for women who acquire CMV infection for the first time during pregnancy. The risk is much lower for women who have had CMV infection in the past before pregnancy. - Immunocompromised individuals. CMV infection may be severe in solid organ or blood cell transplant recipients, people with untreated or end-stage HIV-AIDS, or others with altered immune function. Infection may affect the brain (encephalitis), spinal cord (myelitis), eye (retinitis), or other organs such as the lungs (pneumonia) or intestinal gract (gastritis, enteritis, or colitis). In addition, transplant recipients may develop organ rejection or graft-versus-host disease associated with CMV infection. |
research | what research (or clinical trials) is being done for Neurological Consequences of Cytomegalovirus Infection ? | The National Institute of Neurological Disorders and Stroke (NINDS), and other institutes of the National Institutes of Health (NIH), conduct research related to CMV infection in laboratories at the NIH, and support additional research through grants to major medical institutions across the country. Much of this research focuses on finding better ways to prevent and treat CMV infection in people at risk of severe neurological consequences, especially a safe and effective CMV vaccine. |
information | What is Muscular Dystrophy ? | The muscular dystrophies (MD) are a group of more than 30 genetic diseases characterized by progressive weakness and degeneration of the skeletal muscles that control movement. Some forms of MD are seen in infancy or childhood, while others may not appear until middle age or later. The disorders differ in terms of the distribution and extent of muscle weakness (some forms of MD also affect cardiac muscle), age of onset, rate of progression, and pattern of inheritance. Duchenne MD is the most common form of MD and primarily affects boys. It is caused by the absence of dystrophin, a protein involved in maintaining the integrity of muscle. Onset is between 3 and 5 years and the disorder progresses rapidly. Most boys are unable to walk by age 12, and later need a respirator to breathe. Girls in these families have a 50 percent chance of inheriting and passing the defective gene to their children. Boys with Becker MD (very similar to but less severe than Duchenne MD) have faulty or not enough dystrophin. Facioscapulohumeral MD usually begins in the teenage years. It causes progressive weakness in muscles of the face, arms, legs, and around the shoulders and chest. It progresses slowly and can vary in symptoms from mild to disabling. Myotonic MD is the disorder's most common adult form and is typified by prolonged muscle spasms, cataracts, cardiac abnormalities, and endocrine disturbances. Individuals with myotonic MD have long, thin faces, drooping eyelids, and a swan-like neck. |
treatment | What are the treatments for Muscular Dystrophy ? | There is no specific treatment to stop or reverse any form of MD. Treatment may include physical therapy, respiratory therapy, speech therapy, orthopedic appliances used for support, and corrective orthopedic surgery. Drug therapy includes corticosteroids to slow muscle degeneration, anticonvulsants to control seizures and some muscle activity, immunosuppressants to delay some damage to dying muscle cells, and antibiotics to fight respiratory infections. Some individuals may benefit from occupational therapy and assistive technology. Some patients may need assisted ventilation to treat respiratory muscle weakness and a pacemaker for cardiac abnormalities. |
outlook | What is the outlook for Muscular Dystrophy ? | The prognosis for people with MD varies according to the type and progression of the disorder. Some cases may be mild and progress very slowly over a normal lifespan, while others produce severe muscle weakness, functional disability, and loss of the ability to walk. Some children with MD die in infancy while others live into adulthood with only moderate disability. |
research | what research (or clinical trials) is being done for Muscular Dystrophy ? | The NINDS supports a broad program of research studies on MD. The goals of these studies are to understand MD and to develop techniques to diagnose, treat, prevent, and ultimately cure the disorder.
The NINDS is a member of the Muscular Dystrophy Coordinating Committee (MDCC). For additional information, please visit: http://www.ninds.nih.gov/about_ninds/groups/mdcc/ |
information | What is Tourette Syndrome ? | Tourette syndrome (TS) is a neurological disorder characterized by repetitive, stereotyped, involuntary movements and vocalizations called tics. The first symptoms of TS are almost always noticed in childhood. Some of the more common tics include eye blinking and other vision irregularities, facial grimacing, shoulder shrugging, and head or shoulder jerking. Perhaps the most dramatic and disabling tics are those that result in self-harm such as punching oneself in the face, or vocal tics including coprolalia (uttering swear words) or echolalia (repeating the words or phrases of others). Many with TS experience additional neurobehavioral problems including inattention, hyperactivity and impulsivity, and obsessive-compulsive symptoms such as intrusive thoughts/worries and repetitive behaviors. |
treatment | What are the treatments for Tourette Syndrome ? | Because tic symptoms do not often cause impairment, the majority of people with TS require no medication for tic suppression. However, effective medications are available for those whose symptoms interfere with functioning. There is no one medication that is helpful to all people with TS, nor does any medication completely eliminate symptoms. Effective medications are also available to treat some of the associated neurobehavioral disorders that can occur in patients with TS. |
outlook | 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. |
research | what research (or clinical trials) is being done for Tourette Syndrome ? | The National Institute of Neurological Disorders and Stroke (NINDS) and other institutes of the National Institutes of Health (NIH) conduct research in laboratories at the NIH and support additional research through grants to major medical institutions across the country. Knowledge about TS comes from studies across a number of medical and scientific disciplines, including genetics, neuroimaging, neuropathology, clinical trials, epidemiology, neurophysiology, neuroimmunology, and descriptive/diagnostic clinical science. Findings from these studies will provide clues for more effective therapies. |
information | What is Hypertonia ? | Hypertonia is a condition in which there is too much muscle tone so that arms or legs, for example, are stiff and difficult to move. Muscle tone is regulated by signals that travel from the brain to the nerves and tell the muscle to contract. Hypertonia happens when the regions of the brain or spinal cord that control these signals are damaged. This can occur for many reasons, such as a blow to the head, stroke, brain tumors, toxins that affect the brain, neurodegenerative processes such as in multiple sclerosis or Parkinson's disease, or neurodevelopmental abnormalities such as in cerebral palsy.
Hypertonia often limits how easily the joints can move. If it affects the legs, walking can become stiff and people may fall because it is difficult for the body to react quickly enough to regain balance. If hypertonia is severe, it can cause a joint to become "frozen," which doctors call a joint contracture.
Spasticity is a term that is often used interchangeably with hypertonia. Spasticity, however, is a particular type of hypertonia in which the muscles' spasms are increased by movement. In this type, patients usually have exaggerated reflex responses.
Rigidity is another type of hypertonia in which the muscles have the same amount of stiffness independent of the degree of movement. Rigidity usually occurs in diseases such as Parkinson's disease, that involve the basal ganglia (a deep region of the brain). To distinguish these types of hypertonia, a doctor will as the patient to relax and then will move the arm or leg at different speeds and in a variety of directions. |
treatment | What are the treatments for Hypertonia ? | Muscle relaxing drugs such as baclofen, diazepam, and dantrolene may be prescribed to reduce spasticity. All of these drugs can be taken by mouth, but baclofen may also be injected directly into the cerebrospinal fluid through an implanted pump. Botulinum toxin is often used to relieve hypertonia in a specific area of the body because its effects are local, not body-wide. People with hypertonia should try to preserve as much movement as possibly by exercising within their limits and using physical therapy.
Drugs that affect the dopamine system (dopamine is a chemical in the brain) such as levodopa/carbidopa, or entacapone, are often used to treat the rigidity associated with Parkinson's disease. |