Ataxia Telangiectasia Information Page
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What is Ataxia Telangiectasia?
Is there any treatment?
What is the prognosis?
Is there Research Being Done?
What is Ataxia Telangiectasia?
Ataxia telangiectasia (A-T) is a rare, progressive, neurodegenerative childhood disease that affects the brain and other body systems. The first signs of the disease, which include delayed development of motor skills, poor balance, and slurred speech, usually occur during the first decade of life. Telangiectasias (tiny, red "spider" veins), which appear in the corners of the eyes or on the surface of the ears and cheeks, are characteristic of the disease, but are not always present and usually do not appear in the first years of life. About 20% of those with A-T develop cancer, most frequently acute lymphocytic leukemia or lymphoma. A lot of individuals with A-T have a weakened immune system, making them susceptible to recurrent respiratory infections. Other features of the disease may include mild diabetes mellitus, premature graying of the hair, difficulty swallowing, and delayed physical and sexual development. Children with A-T usually have normal or above normal intelligence.
Is there any treatment?
There is no cure for A-T and, currently, no way to slow the progression of the disease. Treatment is symptomatic and supportive. Physical and work-related therapy may help maintain flexibility. Speech therapy may also be needed. Gamma-globulin injections may be given to help supplement a weakened immune system. High-dose vitamin regimens may also be used.
What is the prognosis?
The prognosis for individuals with A-T is poor. Those with the disease usually die in their teens or early 20s.
Is there Research Being Done?
NINDS-supported researchers recently discovered the A-T gene, which could lead to more accurate diagnosis of the disease and the development of effective treatments. In addition to supporting basic research on A-T, NINDS funds research aimed at therapeutics development, including development of animal models, gene and stem cell-based therapies, and high-throughput drug screens.
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