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
- Handbook for Families and Caregivers (Ataxia-Telangiectasia Children's Project)
- Preparing for a Visit with the Neurologist (National Ataxia Foundation) - PDF
- ClinicalTrials.gov: Ataxia Telangiectasia (National Institutes of Health)
Journal ArticlesReferences and abstracts from MEDLINE/PubMed (National Library of Medicine)
- Find a Neurologist (American Academy of Neurology)