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Genetic and Rare Diseases Information Center (GARD)

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Ataxia telangiectasia


Other Names for this Disease
  • AT
  • Ataxia-telangiectasia
  • 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]
Last updated: 5/25/2011

References

  1. 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.
  2. Stoppa-Lyonne D. Ataxia-telangiectasia. Orphanet. 2007; http://www.orpha.net/consor/cgi-bin/Disease_Search.php?lng=EN&data_id=104&Disease_Disease_Search_diseaseGroup=Ataxia-telangiectasia&Disease_Disease_Search_diseaseType=Pat&Disease(s)/group%20of%20diseases=Ataxia-telangiectasia&title=Ataxia-telangiecta. Accessed 5/25/2011.
  3. Ataxia-telangiectasia. Genetics Home Reference (GHR). 2008; http://ghr.nlm.nih.gov/condition/ataxia-telangiectasia. Accessed 5/25/2011.
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Basic Information

  • 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 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

  • Online Mendelian Inheritance in Man (OMIM) is a 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.
Other Names for this Disease
  • AT
  • Ataxia-telangiectasia
  • 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.