Ataxia-telangiectasia (A-T) is a rare, childhood neurological disorder that causes degeneration in the part of the brain that controls motor movements and speech.
The prognosis for individuals with A-T is poor. Those with the disease usually die in their teens or early 20s. The incidence of A-T in Caucasians is about 3 per million, so the disorder is very rare.
The first signs of the disease usually occur during the first decade of life. They include:
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. Its most unusual symptom is an acute sensitivity to ionizing radiation, such as X-rays or gamma-rays. Other features of the disease may include:
Children with A-T usually have normal or above normal intelligence.
There is no cure for A-T and, currently, no way to slow the progression of the disease. Treatment is symptomatic and supportive.