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07.09.2014

Ataxia-telangiectasia

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.

Click here for patient recruitment for ataxia telangiectasia clinical trials.

Organizations
Ataxia Telangiectasia (A-T) Children's Project
5300 W. Hillsboro Blvd., Suite 105
Coconut Creek, FL 33073
https://www.atcp.org
Tel: 954-481-6611, 800-5-HELP-A-T (543-5728)

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

A-T Ease Foundation, Inc.
217 Thompson Street, Suite 404
New York, NY 10012
https://www.ateasefoundation.org
Tel: 212-529-0622

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

This information was developed by the National Institute of Neurological Disorders and Stroke.

National Institute of Neurological Disorders and Stroket. NINDS Ataxia Telangiectasia Information Page. Available at: https://www.ninds.nih.gov/disorders/a_t/a-t.htm. Accessed February 20, 2014.

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