Ataxia Telangiectasia

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:

  • Delayed development of motor skills
  • Poor balance
  • Slurred speech

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:

  • Mild diabetes mellitus
  • Premature graying of the hair
  • Difficulty swallowing
  • Delayed physical and sexual development

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.

  • 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.