What is Ataxia Telangiectasia?
Ataxia telangiectasia (A-T) is a rare, progressive, neurodegenerative childhood disease that affects the brain and other body systems. The first signs of the disease, which include delayed development of motor skills, poor balance, and slurred speech, usually occur during the first decade 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 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. 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.
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 a weakened immune system. High-dose vitamin regimens 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, which could lead to more accurate diagnosis of the disease and the development of effective treatments. In addition to supporting basic research on A-T, NINDS funds research aimed at therapeutics development, including development of animal models, gene and stem cell-based therapies, and high-throughput drug screens.
Organizations
Ataxia Telangiectasia (A-T) Children's Project
668 South Military Trail
Deerfield Beach, FL 33442-3023
email info@atcp.org
www.atcp.org
Tel: 954.481.6611 800.5.HELP.A.T (543.5728)
Fax: 954.725.1153
Ataxia Telangiectasia (A-T) Medical Research Foundation
5241 Round Meadow Road
Hidden Hills, CA 91302
becca4435@aol.com
http://www.gspartners.com/at
Tel: 818-704-8146
Fax: 818-704-8310
National Ataxia Foundation (NAF)
2600 Fernbrook Lane North, Suite 119
Minneapolis, MN 55447-4752
email www.ataxia.org
Tel: 763.553.0020
Fax: 763.553.0167
A-T Ease Foundation, Inc.
532 LaGuardia Place, Suite 404
New York, NY 10012
email ATEaseFdn@aol.com
www.ateasefoundation.org
Tel: 212.529.0622
Fax: 212.505.8031
National Organization for Rare Disorders (NORD)
P.O. Box 1968
(55 Kenosia Avenue)
Danbury, CT 06813-1968
www.rarediseases.org
Tel: 203.744.0100 Voice Mail 800.999.NORD (6673)
Fax: 203.798.2291
National Cancer Institute (NCI)
National Institutes of Health, DHHS
6116 Executive Boulevard, Ste. 3036A, MSC 8322
Bethesda, MD 20892-8322
email cancergovstaff@mail.nih.gov
www.cancer.gov
Tel: 800.4.CANCER (422.6237) 800.332.8615 (TTY)
Source: National Institutes of Health; National Institute of Neurological Disorders and Stroke
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This information is provided by the Cleveland Clinic and is not intended to replace the medical advice of your doctor or health care provider. Please consult your health care provider for advice about a specific medical condition. This document was last reviewed on: 7/20/2007...#6021
