Ataxia Telangiectasia

Reprinted from: National Institute of Neurological Disorders and Stroke

What is Ataxia Telangiectasia?

Ataxia telangiectasia (A-T) is a rare, progressive, neurodegenerative childhood disease that affects the nervous system and other body systems. The first signs of the disease, which include lack of balance and slurred speech, usually occur during the first decade of life. The hallmarks of A-T are ataxia (lack of muscle control) and telangiectasias (tiny, red "spider" veins), which appear in the corners of the eyes or on the surface of the ears and cheeks soon after the onset of ataxia. Individuals with A-T are predisposed to leukemia and lymphoma and are extremely sensitive to radiation exposure. 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 ? which causes choking and/or drooling ? and slowed growth. Children with A-T usually maintain 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 occupational therapy may help maintain flexibility. Speech therapy may also be needed. Gamma-globulin injections may be given to help supplement the weakened immune systems. High-dose vitamin regimes 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.

What research is being done?

NINDS-supported researchers recently discovered the A-T gene. The discovery of the gene may lead to more accurate diagnosis of the disease and the development of effective treatments.