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Diseases

Genetic and Rare Diseases Information Center (GARD)

Ataxia telangiectasia


Other Names for this Disease
  • AT
  • Louis-Bar syndrome
  • Cerebello-oculocutaneous telangiectasia
  • Immunodeficiency with ataxia telangiectasia
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 rare condition that affects the nervous system, the immune system, and many other parts of the body. Signs and symptoms of the condition usually begin in early childhood, often before age 5. The condition is typically characterized by cerebellar ataxia (uncoordinated muscle movements), oculomotor apraxia, telangiectasias, choreoathetosis (uncontrollable movements of the limbs), a weakened immune system with frequent infections, and an increased risk of cancers such as leukemia and lymphoma.[1][2] A-T is caused by changes (mutations) in the ATM gene and is inherited in an autosomal recessive manner.[3] Treatment is supportive and based on the signs and symptoms present in each person.[2]
Last updated: 4/5/2016

References

  1. NINDS Ataxia Telangiectasia Information Page. National Institute of Neurological Disorders and Stroke (NINDS). July, 2015; http://www.ninds.nih.gov/disorders/a_t/a-t.htm.
  2. Richard Gatti, MD. Ataxia-Telangiectasia. GeneReviews. March 2010; http://www.ncbi.nlm.nih.gov/books/NBK26468.
  3. Ataxia-telangiectasia. Genetics Home Reference (GHR). 2013; http://ghr.nlm.nih.gov/condition/ataxia-telangiectasia.
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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 Cancer Institute provides the most current information on cancer for patients, health professionals, and the general public.
  • 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

  • Medscape Reference provides information on this topic. You may need to register to view the medical textbook, but registration is free.
  • 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
  • Louis-Bar syndrome
  • Cerebello-oculocutaneous telangiectasia
  • Immunodeficiency with ataxia telangiectasia
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.