Print friendly version
Ataxia telangiectasia
Other Names for this Disease
- AT
- Cerebello-oculocutaneous telangiectasia
- Immunodeficiency with ataxia telangiectasia
- Louis-Bar syndrome
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.
Overview
Ataxia telangiectasia (A-T) is an inherited childhood disorder that causes degeneration in the part of the brain that controls motor movements and speech.[1] The condition is characterized by neurological signs, telangiectasias, susceptibility to infections and an increased risk of cancer.[2] Mutations in the ATM gene cause ataxia-telangiectasia. The condition is inherited in an autosomal recessive pattern.[3] There is no cure for A-T and, currently, no way to slow the progression of the disease. Treatment is symptomatic and supportive.[1]
References
- NINDS Ataxia Telangiectasia Information Page. National Institute of Neurological Disorders and Stroke (NINDS). http://www.ninds.nih.gov/disorders/a_t/a-t.htm. Accessed May 25, 2011.
- Stoppa-Lyonne D. Ataxia-telangiectasia. Orphanet. http://www.orphanet.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=100. Accessed May 25, 2011.
- Ataxia-telangiectasia. Genetics Home Reference (GHR). http://ghr.nlm.nih.gov/condition/ataxia-telangiectasia. Accessed May 25, 2011.
Your Questions Answered
by the Genetic and Rare Diseases Information Center1 question(s) from the public on Ataxia telangiectasia have been answered. See questions and answers. You can also submit a new question.
On this page
General Information
- Genetics Home Reference (GHR) contains information on Ataxia telangiectasia. Click on the link to go to GHR and review the information.
- MedlinePlus, a Web site designed by the National Library of Medicine to help you research your health questions, provides more information about this topic. Click on the link to view this information.
- 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.
- Orphanet is a European reference portal for information on rare diseases and orphan drugs. Access to this database is free of charge. Click on the link to read information on this topic.
- 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 The Online Mendelian Inheritance in Man (OMIM) database contains genetics resources that discuss Ataxia telangiectasia. Click on the link to go to OMIM and review these resources.
Insurance Issues
- 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.