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Other Names for this Disease
- Cerebello-oculocutaneous telangiectasia
- Immunodeficiency with ataxia telangiectasia
- Louis-Bar syndrome
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 The condition is characterized by neurological signs, telangiectasias, susceptibility to infections and an increased risk of cancer. Mutations in the ATM gene cause ataxia-telangiectasia. The condition is inherited in an autosomal recessive pattern. There is no cure for A-T and, currently, no way to slow the progression of the disease. Treatment is symptomatic and supportive.Ataxia telangiectasia (A-T) is an inherited childhood disorder that causes degeneration in the part of the brain that controls motor movements and speech.
Last updated: 5/25/2011
- NINDS Ataxia Telangiectasia Information Page. National Institute of Neurological Disorders and Stroke (NINDS). 2011; http://www.ninds.nih.gov/disorders/a_t/a-t.htm. Accessed 5/25/2011.
- Stoppa-Lyonne D. Ataxia-telangiectasia. Orphanet. 2007; http://www.orphanet.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=100. Accessed 5/25/2011.
- Ataxia-telangiectasia. Genetics Home Reference (GHR). 2008; http://ghr.nlm.nih.gov/condition/ataxia-telangiectasia. Accessed 5/25/2011.
- Genetics Home Reference (GHR) contains information on Ataxia telangiectasia. This website is maintained by the National Library of Medicine.
- MedlinePlus was designed by the National Library of Medicine to help you research your health questions, and it provides more information about this topic.
- The National Cancer Institute provides the most current information on cancer for patients, health professionals, and the general public. Click on the link to view information on this topic.
- The National Institute of Neurological Disorders and Stroke (NINDS) collects and disseminates research information related to neurological disorders. Click on the link to view information on this topic.
- The National Organization for Rare Disorders (NORD) is a federation of more than 130 nonprofit voluntary health organizations serving people with rare disorders. Click on the link to view information on this topic.
In Depth Information
- The Online Mendelian Inheritance in Man (OMIM) is an catalog of human genes and genetic disorders. Each entry has a summary of related medical articles. It is meant for health care professionals and researchers. OMIM is maintained by Johns Hopkins University School of Medicine.
- Orphanet is a European reference portal for information on rare diseases and orphan drugs. Access to this database is free of charge.
- PubMed is a searchable database of medical literature and lists journal articles that discuss Ataxia telangiectasia. Click on the link to view a sample search on this topic.
- The Social Security Administration has included this condition in their Compassionate Allowances Initiative. This initiative speeds up the processing of disability claims for applicants with certain medical conditions that cause severe disability. More information about Compassionate Allowances and applying for Social Security disability is available online.