Ataxia Telangiectasia
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What is Ataxia Telangiectasia?Is there any treatment?What is the prognosis?What research is being done?OrganizationsWhat 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.
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
|
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.
532 LaGuardia Place
Suite 404
New York,
NY
10012
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
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)
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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.
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Last updated July 20, 2007
