Ataxia-telangiectasia is a rare, childhood neurological disorder that causes degeneration in the part of the brain that controls motor movements and speech. The first signs of the disease are unsteady walking and slurred speech, usually occurring during the first five years of life. 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 35 percent of those with A-T develop cancer, most frequently acute lymphocytic leukemia or lymphoma. The most unusual symptom is an acute sensitivity to ionizing radiation, such as X-rays or gamma rays. 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, and delayed physical and sexual development. Children with A-T usually have normal or above normal intelligence.
Average lifespan has been improving for years, for unknown reasons, and varies with the severity of the underlying mutations,
ATM (ataxia-telangiectasia mutated) protein levels, and residual ATM kinase activity. Some individuals with later onset of
disease and slower progression survive into their 50s.
Average lifespan has been improving for years, for unknown reasons, and varies with the severity of the underlying mutations, ATM (ataxia-telangiectasia mutated) protein levels, and residual ATM kinase activity. Some individuals with later onset of disease and slower progression survive into their 50s.
|Ataxia Telangiectasia (A-T) Children's Project
5300 W. Hillsboro Blvd.
Coconut Creek, FL 33073
Tel: 954-481-6611 800-5-HELP-A-T (543-5728)
|National Ataxia Foundation (NAF)
2600 Fernbrook Lane North
Minneapolis, MN 55447-4752
|A-T Ease Foundation, Inc.
217 Thompson Street
New York, NY 10012
|National Organization for Rare Disorders (NORD)
55 Kenosia Avenue
Danbury, CT 06810
Tel: 203-744-0100 Voice Mail 800-999-NORD (6673)
|National Cancer Institute (NCI)
National Institutes of Health, DHHS
6116 Executive Boulevard, Ste. 3036A, MSC 8322
Bethesda, MD 20892-8322
Tel: 800-4-CANCER (422-6237) 800-332-8615 (TTY)
Office of Communications and Public Liaison
National Institute of Neurological Disorders and Stroke
National Institutes of Health
Bethesda, MD 20892
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Last updated December 27, 2013