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Glossary

Ataxia-Telangiectasia
Ataxia-Telangiectasia ("A-T") is a rare inherited disorder that affects the nervous and immune systems, as well as other body systems. A-T is characterized by progressive difficulty with coordinating movements (ataxia) and also small clusters of enlarged blood vessels (telangiectases), which occur in the eyes and on the surface of the skin. Individuals with A-T often have weakened immune systems, increased risk of developing cancer and are very sensitive to the effects of radiation exposure.

Ataxia
Lack of muscular control.

Telangiectasia
Telangiectases are tiny red spider veins which appear in the eyes and on the surface of the skin.


FAQs

What is A-T?

First identified in 1957, Ataxia-Telangiectasia (A-T) is a rare genetic disorder that attacks children. It is a degenerative, multi-system disease that affects the neurological and immune systems of children that carry two copies of a defective A-T gene. Although an estimated 2.5 million U.S. residents carry the A-T gene, it is considered a recessive genetic disorder because carriers do not exhibit symptoms. Even more significant, two unsuspecting carriers have a 25% chance of bearing a child with A-T with each pregnancy. Little is known about the disease and misdiagnoses are common.

The gene which is responsible for A-T interacts with cell proteins to repair DNA. When the gene is mutated, it is unable to send signals to repair damaged DNA which results in the progressive breakdown in an A-T child's systems.

How Does A-T Affect You?

A-T exhibits features that are of major concern in medicine today: cancer susceptibility, immune deficiency, progressive neurological deterioration, and premature aging.

  • 10% of A-T patients develop cancer including leukemias and lymphomas.
  • A-T patients suffer from progressive breakdown of the immune system that is relevant to other immunodeficiencies including AIDS.
  • A-T patients experience degeneration of brain cells similar to individuals suffering from Parkinson's and Alzheimer's diseases.