Ataxia telangiectasia (AT) is a rare, progressive, neurodegenerative childhood disease that affects the nervous system and other body systems.
The first sign of the disease is usually the lack of balance and coordination, presenting during the first two or three years of life. The hallmarks of AT are ataxia (lack of muscle control) and other movement disorders, and telangiectasias (tiny, red "spider" veins), which appear in the corners of the eyes or on the surface of the ears and cheeks after the onset of ataxia. Persons with AT are often initially misdiagnosed as having cerebral palsy. Individuals with AT are predisposed to leukemia and lymphoma and are extremely sensitive to radiation exposure. Many individuals with AT have a weakened immune system. This, in association with swallowing problems, makes them susceptible to recurrent respiratory infections. Other features of the disease may include mild diabetes mellitus, premature aging and graying of the hair and slowed growth.
There is currently no cure for AT, but the gene has been identified, and multiple research studies are in process. The mainstays of treatment are symptomatic and supportive. Rehabilitation therapies are useful in optimizing the person's functional abilities and independence, providing guidelines for physical activity and therapeutic programs, teaching appropriate compensations and providing adaptive equipment.