There is substantial variability in the severity of features of A–T among affected individuals, and at different ages. The following symptoms or problems are either common or important features of A–T: *<unk>  (difficulty with control of movement) that is apparent early but worsens in school to pre-teen years * Oculomotor apraxia (difficulty with coordination of head and eye movement when shifting gaze from one place to the next) * Involuntary movements *<unk>  (dilated blood vessels) over the white (sclera) of the eyes, making them appear bloodshot. These are not apparent in infancy and may first appear at age 5–8 years.<unk>  may also appear on sun-exposed areas of skin. * Problems with infections, especially of the ears, sinuses and lungs * Increased incidence of cancer (primarily, but not exclusively, lymphomas and leukemias) * Delayed onset or incomplete pubertal development, and very early menopause * Slowed rate of growth (weight and/or height) * Drooling particularly in young children when they are tired or concentrating on activities * Dysarthria (slurred, slow, or distorted speech sounds) * Diabetes in adolescence or later * Premature changes in hair and skin Many children are initially misdiagnosed as having cerebral palsy. The diagnosis of A–T may not be made until the preschool years when the neurologic symptoms of impaired gait, hand coordination, speech and eye movement appear or worsen, and the<unk>  first appear. Because A–T is so rare, doctors may not be familiar with the symptoms, or methods of making a diagnosis. The late appearance of<unk>  may be a barrier to the diagnosis. It may also take some time before doctors consider A–T as a possibility because of the early stability of symptoms and signs. There are patients who have been diagnosed with A-T only in adulthood due to an attenuated form of the disease, and this has been correlated with the type of their gene mutation.<unk>  and other neurologic problems The first indications of A–T usually occur during the toddler years. Children start walking at a normal age, but may not improve much from their initial wobbly gait. Sometimes they have problems standing or sitting still and tend to sway backward or from side to side. In primary school years, walking becomes more difficult, and children will use doorways and walls for support. Children with A–T often appear better when running or walking quickly in comparison to when they are walking slowly or standing in one place. Around the beginning of their second decade, children with the more severe ("classic") form of A–T start using a wheelchair for long distances. During school years, children may have increasing difficulty with reading because of impaired coordination of eye movement. At the same time, other problems with fine-motor functions (writing, coloring, and using utensils to eat), and with slurring of speech (dysarthria) may arise. Most of these neurologic problems stop progressing after the age of about 12 – 15 years, though involuntary movements may start at any age and may worsen over time. These extra movements can take many forms, including small jerks of the hands and feet that look like fidgeting (chorea), slower twisting movements of the upper body (athetosis), adoption of stiff and twisted postures (dystonia), occasional uncontrolled jerks (myoclonic jerks), and various rhythmic and non-rhythmic movements with attempts at coordinated action (tremors).<unk>  Ocular<unk>  in a person with A–T Prominent blood vessels<unk>  over the white (sclera) of the eyes usually occur by the age of 5–8 years, but sometimes appear later or not at all. The absence of<unk>  does not exclude the diagnosis of A–T. Potentially a cosmetic problem, the ocular<unk>  do not bleed or itch, though they are sometimes misdiagnosed as chronic conjunctivitis. It is their constant nature, not changing with time, weather or emotion, that marks them as different from other visible blood vessels.<unk>  can also appear on sun-exposed areas of skin, especially the face and ears. They occur in the bladder as a late complication of chemotherapy with cyclophosphamide, have been seen deep inside the brain of older people with A–T, and occasionally arise in the liver and lungs. Immune problems About two-thirds of people with A–T have abnormalities of the immune system. The most common abnormalities are low levels of one or more classes of immunoglobulins (IgG, IgA, IgM, and IgG subclasses), not making antibodies in response to vaccines or infections, and having low numbers of lymphocytes (especially T-lymphocytes) in the blood. Some people have frequent infections of the upper (colds, sinus and ear infections) and lower (bronchitis and pneumonia) respiratory tract. All children with A–T should have their immune systems evaluated to detect those with severe problems that require treatment to minimize the number or severity of infections. Some people with A–T need additional immunizations (especially with pneumonia and influenza vaccines), antibiotics to provide protection (prophylaxis) from infections, and/or infusions of immunoglobulins (gamma globulin). The need for these treatments should be determined by an expert in the field of immunodeficiency or infectious diseases. Cancer People with A–T have a highly increased incidence (approximately 25% lifetime risk) of cancers, particularly lymphomas and leukemia, but other cancers can occur. Women who are A–T carriers (who have one mutated copy of the ATM gene), have approximately a two-fold increased risk for the development of breast cancer compared to the general population. This includes all mothers of A–T children and some female relatives. Current consensus is that special screening tests are not helpful, but all women should have routine cancer surveillance. Skin A–T can cause features of early aging such as premature graying of the hair. It can also cause vitiligo (an auto-immune disease causing loss of skin pigment resulting in a blotchy “bleach-splashed” look), and warts which can be extensive and recalcitrant to treatment. A small number of people develop a chronic inflammatory skin disease (granulomas). Lung disease Chronic lung disease develops in more than 25% of people with A–T. Lung function tests (spirometry) should be performed at least annually in children old enough to perform them, influenza and pneumococcal vaccines given to eligible individuals, and sinopulmonary infections treated aggressively to limit the development of chronic lung disease. Feeding, swallowing, and nutrition Feeding and swallowing can become difficult for people with A–T as they get older. Involuntary movements may make feeding difficult or messy and may excessively prolong mealtimes. It may be easier to finger feed than use utensils (e.g., spoon or fork). For liquids, it is often easier to drink from a closed container with a straw than from an open cup. Caregivers may need to provide foods or liquids so that self-feeding is possible, or they may need to feed the person with A–T. In general, meals should be completed within approximately 30 minutes. Longer meals may be stressful, interfere with other daily activities, and limit the intake of necessary liquids and nutrients. If swallowing problems (dysphagia) occur, they typically present during the second decade of life. Dysphagia is common because of the neurological changes that interfere with coordination of mouth and pharynx (throat) movements that are needed for safe and efficient swallowing. Coordination problems involving the mouth may make chewing difficult and increase the duration of meals. Problems involving the pharynx may cause liquid, food, and saliva to be inhaled into the airway (aspiration). People with dysphagia may not cough when they aspirate (silent aspiration). Swallowing problems and especially swallowing problems with silent aspiration may cause lung problems due to inability to cough and clear food and liquids from the airway. ; Warning signs of a swallowing problem * Choking or coughing when eating or drinking * Poor weight gain (during ages of expected growth) or weight loss at any age * Excessive drooling * Mealtimes longer than 40 – 45 minutes, on a regular basis * Foods or drinks previously enjoyed are now refused or difficult * Chewing problems * Increase in the frequency or duration of breathing or respiratory problems * Increase in lung infections Eye and vision * Most people develop<unk>  (prominent blood vessels) in the membrane that covers the white part (sclera) of the eye. * Vision (ability to see objects in focus) is normal. * Control of eye movement is often impaired, affecting visual functions that require fast, accurate eye movements from point to point (e.g. reading). * Eye misalignments (strabismus) are common, but may be treatable. * There may be difficulty in coordinating eye position and shaping the lens to see objects up close. Orthopedics Many individuals with A–T develop deformities of the feet that compound the difficulty they have with walking due to impaired coordination. Early treatment may slow progression of this deformity. Bracing or surgical correction sometimes improves stability at the ankle sufficient to enable an individual to walk with support, or bear weight during assisted standing transfers from one seat to another. Severe scoliosis is relatively uncommon, but probably does occur more often than in those without A–T. Spinal fusion is only rarely indicated.
Ataxia–telangiectasia
SAPHO syndrome
Wiskott–Aldrich syndrome
DiGeorge syndrome
Alagille syndrome
Kabuki syndrome
Chronic granulomatous disease
Severe combined immunodeficiency