Article: Ataxia Telangiectasia Information Page

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 generally 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. Many 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?

What is the prognosis?

What research is being done?

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