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Summary
Ataxia-telangiectasia (A-T) is a rare, inherited disease. It affects the nervous system, immune system, and other body systems. Symptoms appear in young children, usually before age 5. They include:
- Ataxia - trouble coordinating movements
- Poor balance
- Slurred speech
- Tiny, red spider veins, called telangiectasias, on the skin and eyes
- Lung infections
- Delayed physical and sexual development
People with A-T have an increased risk of developing diabetes and cancers, especially lymphoma and leukemia. Although it affects the brain, people with A-T usually have normal or high intelligence.
A-T has no cure. Treatments might improve some symptoms. They include injections to strengthen the immune system, physical and speech therapy, and high-dose vitamins.
NIH: National Institute of Neurological Disorders and Stroke
Learn More
- Ataxia - telangiectasia (Medical Encyclopedia) Also in Spanish
-
Ataxia Telangiectasia
(National Institute of Neurological Disorders and Stroke)
- Ataxia-Telangiectasia (For Parents) (Nemours Foundation) Also in Spanish
- Learn About A-T (Ataxia-Telangiectasia Children's Project)
-
National Institute of Neurological Disorders and Stroke
Genetics
-
Ataxia-telangiectasia: MedlinePlus Genetics
(National Library of Medicine)
Clinical Trials
-
ClinicalTrials.gov: Ataxia Telangiectasia
(National Institutes of Health)
Journal Articles References and abstracts from MEDLINE/PubMed (National Library of Medicine)
- Article: Centralized rapid genetic diagnosis of combined immunodeficiency in Japan.
- Article: Loss of CD98HC phosphorylation by ATM impairs antiporter trafficking and drives...
- Article: Breast tumors from ATM pathogenic variant carriers display a specific genome-wide...
- Ataxia Telangiectasia -- see more articles
The information on this site should not be used as a substitute for professional medical care or advice. Contact a health care provider if you have questions about your health.