Ataxia-telangiectasia (AT) 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 AT have an increased risk of developing diabetes and cancers, particularly lymphoma and leukemia. Although it affects the brain, people with AT usually have normal or above normal intelligence.
AT has no cure. Treatments might improve some symptoms. They include injections to strengthen the immune system, physical and speech therapy, and high-dose vitamin therapy.
NIH: National Institute of Neurological Disorders and Stroke
- Preparing for a Visit with the Neurologist (National Ataxia Foundation) - PDF
- Genetics Home Reference: Ataxia-telangiectasia (National Library of Medicine)
- ClinicalTrials.gov: Ataxia Telangiectasia (National Institutes of Health)
Journal ArticlesReferences and abstracts from MEDLINE/PubMed (National Library of Medicine)
- Article: Ataxia-Telangiectasia and RAD3-Related and Ataxia-Telangiectasia-Mutated Proteins in Epithelial Ovarian Carcinoma:...
- Article: Role of chromatin structure modulation by the histone deacetylase inhibitor...
- Article: The role of epigenomics in the neurodegeneration of ataxia-telangiectasia.
- Ataxia Telangiectasia -- see more articles
Find an Expert
- Find a Neurologist (American Academy of Neurology)
- National Institute of Neurological Disorders and Stroke Available in Spanish