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Ataxia Telangiectasia

What is Ataxia Telangiectasia?

Ataxia telangiectasia is a rare, progressive, neurodegenerative childhood disease that affects the brain and other body systems.

Symptoms of Ataxia Telangiectasia

The first symptoms of ataxia telangiectasia occur during the first decade of life. The first signs of ataxia telangiectasia include delayed development of motor skills, poor balance, and slurred speech.

Tiny, red "spider" veins, which appear in the corners of the eyes or on the surface of the ears and cheeks, are characteristic of ataxia telangiectasia, but are not always present and generally do not appear in the first years of life. About 20% of people with Ataxia telangiectasia develop cancer, most frequently acute lymphocytic leukemia or lymphoma.

Many individuals with ataxia telangiectasia have a weakened immune system, making them susceptible to recurrent respiratory infections. Other features of the Ataxia telangiectasia may include mild diabetes mellitus, premature graying of the hair, difficulty swallowing, and delayed physical and sexual development. Children with Ataxia telangiectasia usually have normal or above normal intelligence.

Ataxia Telangiectasia is also called A-T.

Can Ataxia telangiectasia be Treated?

Currently, there is no cure for Ataxia telangiectasia.

Treatment is is aimed at reducing the symptoms of Ataxia telangiectasia. Physical and occupational 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 of Ataxia telangiectasia?

Unfortunately, the prognosis for individuals with ataxia telangiectasia is poor. People with ataxia telangiectasia usually die in their teens or early 20s.

What research is being done?

NINDS-supported researchers recently discovered the Ataxia telangiectasia gene, which could lead to more accurate diagnosis of the disease and the development of effective treatments. In addition to supporting basic research on Ataxia telangiectasia, 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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