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   Ataxia Telangiectasia 
  
Reviewed  07-01-2001  

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What is Ataxia Telangiectasia?
Is there any treatment?
What is the prognosis?
What research is being done?

Organizations
Related NINDS Publications and Information

What is Ataxia Telangiectasia?
Ataxia telangiectasia (A-T) is a rare, progressive, neurodegenerative childhood disease that affects the nervous system and other body systems. The first signs of the disease, which include lack of balance and slurred speech, usually occur during the first decade of life. The hallmarks of A-T are ataxia (lack of muscle control) and telangiectasias (tiny, red "spider" veins), which appear in the corners of the eyes or on the surface of the ears and cheeks soon after the onset of ataxia. Individuals with A-T are predisposed to leukemia and lymphoma and are extremely sensitive to radiation exposure. 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 ? which causes choking and/or drooling ? and slowed growth. Children with A-T usually maintain 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 the weakened immune systems. High-dose vitamin regimes 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. The discovery of the gene may lead to more accurate diagnosis of the disease and the development of effective treatments.

Select this link to view a list of studies currently seeking patients.

 Organizations

Ataxia Telangiectasia (A-T) Children's Project
668 South Military Trail
Deerfield Beach, FL 33442-3023
Info@atcp.org
http://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

Ataxia Telangiectasia (A-T) Project
3002 Enfield Road
Austin, TX 78703
A-TProject@austin.rr.com
http://www.atproject.org
Tel: 512-472-4892
Fax: 512-472-4892

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

National Organization for Rare Disorders (NORD)
P.O. Box 1968
(55 Kenosia Avenue)
Danbury, CT 06813-1968
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
Bldg. 31, Rm. 10A31
Bethesda, MD 20892-2580
cancermail@icicc.nci.nih.gov
http://cancernet.nci.nih.gov
Tel: 301-435-3848 NCI's Cancer Information Service 800-4-CANCER (422-6237) TTY: 800-332-8615

National Institute of Child Health and Human Development (NICHD)
National Institutes of Health
Bldg. 31, Rm. 2A32
Bethesda, MD 20892-2425
NICHDClearinghouse@mail.nih.gov
http://www.nichd.nih.gov
Tel: 301-496-5133 800-370-2943

Related NINDS Publications and Information

  • The Role of DNA Damage Response Defects in Neurogenetic Diseases

  • The Role of DNA Damage Response Defects in Neurogenetic Diseases


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    National Institutes of Health
    Bethesda, MD 20892




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