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
- Ataxia - telangiectasia
- Ataxia Telangiectasia (National Cancer Institute)
- Ataxia Telangiectasia (National Institute of Neurological Disorders and Stroke) - Short Summary
- Ataxia-Telangiectasia (A-T) (National Ataxia Foundation) - PDF
- Find a Neurologist (American Academy of Neurology)
- Genetics Home Reference: Ataxia-telangiectasia (National Library of Medicine)
- National Institute of Neurological Disorders and Stroke Available in Spanish
- Preparing for a Visit with the Neurologist (National Ataxia Foundation) - PDF
- What Is Ataxia-Telangiectasia? (Ataxia-Telangiectasia Children's Project)
- 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