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
- About Ataxia-Telangiectasia (Ataxia-Telangiectasia Children's Project)
- Ataxia - telangiectasia (Medical Encyclopedia) Also in Spanish
- Ataxia Telangiectasia (National Institute of Neurological Disorders and Stroke)
- Ataxia-Telangiectasia (For Parents) (Nemours Foundation)
- National Institute of Neurological Disorders and Stroke Also in Spanish
- Ataxia-telangiectasia: MedlinePlus Genetics (National Library of Medicine)
- ClinicalTrials.gov: Ataxia Telangiectasia (National Institutes of Health)
Journal Articles References and abstracts from MEDLINE/PubMed (National Library of Medicine)
- Article: Quality of life and neurological disability in children and young people...
- Article: MRN-dependent and independent pathways for recruitment of TOPBP1 to DNA double-strand...
- Article: Utility of targeted next generation sequencing for inborn errors of immunity...
- Ataxia Telangiectasia -- see more articles