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NINDS Ataxia Telangiectasia Information Page


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What is Ataxia Telangiectasia?

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.

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 help to maintain flexibility. Speech therapy is important, teaching children to control air flow to the vocal cords.  Gamma-globulin injections may be useful if immunoglobulin levels are sufficiently reduced to weaken the immune system. High-dose vitamin regimens and antioxidants such as alpha lipoic acid also may also be used.

What is the prognosis?

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.  

What research is being done?

NINDS-supported researchers discovered the gene responsible for A-T, known as ATM (ataxia-telangiectasia mutated) in 1995. This gene makes a protein that activates many (probably more than 700) other proteins that control cell cycle, DNA repair, and cell death. Without it, cells are unable to activate the cellular checkpoints that protect against the damage of ionizing radiation and other agents that can harm DNA. In addition to supporting basic research on A-T, NINDS also funds research aimed at A-T drug development, including development of animal models, gene and stem-cell based therapies, and high-throughput drug screens. The NINDS also leads a trans-NIH A-T Working Group whose members include NINDS, NHLBI, NIEHS, NCI, NEI, NIGMS, NHGRI, NIA, NIAID, NICHD, and ORD.

NIH Patient Recruitment for Ataxia Telangiectasia Clinical Trials

Organizations

Column1 Column2
Ataxia Telangiectasia (A-T) Children's Project
5300 W. Hillsboro Blvd.
Suite 105
Coconut Creek, FL   33073
Info@atcp.org
http://www.atcp.org
Tel: 954-481-6611 800-5-HELP-A-T (543-5728)
Fax: 954-725-1153

National Ataxia Foundation (NAF)
2600 Fernbrook Lane North
Suite 119
Minneapolis, MN   55447-4752
naf@ataxia.org
http://www.ataxia.org
Tel: 763-553-0020
Fax: 763-553-0167

A-T Ease Foundation, Inc.
217 Thompson Street
Suite 404
New York, NY   10012
info@ateasefoundation.org
http://www.ateasefoundation.org
Tel: 212-529-0622
Fax: 212-505-8031

National Organization for Rare Disorders (NORD)
55 Kenosia Avenue
Danbury, CT   06810
orphan@rarediseases.org
http://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
cancergovstaff@mail.nih.gov
http://cancer.gov
Tel: 800-4-CANCER (422-6237) 800-332-8615 (TTY)

 
Related NINDS Publications and Information


Prepared by:
Office of Communications and Public Liaison
National Institute of Neurological Disorders and Stroke
National Institutes of Health
Bethesda, MD 20892



NINDS health-related material is provided for information purposes only and does not necessarily represent endorsement by or an official position of the National Institute of Neurological Disorders and Stroke or any other Federal agency. Advice on the treatment or care of an individual patient should be obtained through consultation with a physician who has examined that patient or is familiar with that patient's medical history.

All NINDS-prepared information is in the public domain and may be freely copied. Credit to the NINDS or the NIH is appreciated.

Last updated December 27, 2013