Ataxia Telangiectasia

National Organization for Rare Disorders, Inc.

Important
It is possible that the main title of the report Ataxia Telangiectasia is not the name you expected. Please check the synonyms listing to find the alternate name(s) and disorder subdivision(s) covered by this report.

Synonyms

  • AT
  • Cerebello-Oculocutaneous Telangiectasia
  • Immunodeficiency with Ataxia Telangiectasia
  • Louis-Bar Syndrome

Disorder Subdivisions

  • None

General Discussion

Ataxia telangiectasia (AT) is a complex genetic neurodegenerative disorder that may become apparent during infancy or early childhood. The disorder is characterized by progressively impaired coordination of voluntary movements (ataxia); the development of reddish lesions of the skin and mucous membranes due to permanent widening of groups of blood vessels (telangiectasia); and impaired functioning of the immune system (i.e., cellular and humoral immunodeficiency), resulting in increased susceptibility to upper and lower respiratory infections (sinopulmonary infections). Individuals with AT also have an increased risk of developing certain malignancies, particularly of the lymphatic system (lymphomas), the blood-forming organs (e.g., leukemia), and the brain.

In those with AT, progressive ataxia typically develops during infancy and may initially be characterized by abnormal swaying of the head and trunk. As the disease progresses, the condition leads to an inability to walk (ambulation) by late childhood or adolescence. Ataxia is often accompanied by difficulty speaking (dysarthria); drooling; and an impaired ability to coordinate certain eye movements (oculomotor apraxia), including the occurrence of involuntary, rapid, rhythmic motions (oscillations) of the eyes while attempting to focus upon certain objects (fixation nystagmus). Affected children may also develop an unusually stooped posture and irregular, rapid, jerky movements that may occur in association with relatively slow, writhing motions (choreoathetosis). In addition, telangiectasias may develop by mid-childhood, often appearing on sun-exposed areas of the skin, such as the bridge of the nose, the ears, and certain regions of the extremities, as well as the mucous membranes of the eyes (conjunctiva).

AT is inherited as an autosomal recessive trait. The disorder is caused by changes (mutations) of a gene known as ATM (for "AT mutated") that has been mapped to the long arm (q) of chromosome 11 (11q22.3). The ATM gene controls (encodes for) the production of an enzyme that plays a role in regulating cell division following DNA damage.

Resources

March of Dimes Birth Defects Foundation
1275 Mamaroneck Avenue
White Plains, NY 10605
Tel: (914)997-4488
Fax: (914)997-4763
Tel: (888)663-4637
Email: Askus@marchofdimes.com
Internet: http://www.marchofdimes.com

National Ataxia Foundation
2600 Fernbrook Lane, Suite 119
Minneapolis, MN 55447-4752
USA
Tel: (763)553-0020
Fax: (763)553-0167
Email: naf@ataxia.org
Internet: http://www.ataxia.org

A-T Children's Project (Ataxia Telangiectasia Children's Project)
5300 W. Hillsboro Blvd., Suite 105
Coconut Creek, FL 33073
USA
Tel: (954)481-6611
Fax: (954)725-1153
Tel: (800)543-5728
Email: info@atcp.org
Internet: http://www.atcp.org

American Cancer Society, Inc.
1599 Clifton Road NE
Atlanta, GA 30329
USA
Tel: (404)320-3333
Tel: (800)227-2345
TDD: (866)228-4327
Internet: http://www.cancer.org

American Diabetes Association
Attn: National Call Center
1701 N. Beauregard Street
Alexandria, VA 22311
Tel: (703)549-1500
Fax: (703)549-6995
Tel: (800)342-2383
Email: askADA@diabetes.org
Internet: http://www.diabetes.org

A-T Medical Research Foundation
16224 Elisa Place
Encino, CA 91436
USA
Tel: (818)906-2861
Fax: (818)906-2870
Email: atmrf@aol.com
Internet: http://www.ninds.nih.gov/find_people/voluntary_orgs/volorg17.htm

National Institute of Neurological Disorders and Stroke (NINDS)
P.O. Box 5801
Bethesda, MD 20824
Tel: (301)496-5751
Fax: (301)402-2186
Tel: (800)352-9424
TDD: (301)468-5981
Email: me20t@nih.gov
Internet: http://www.ninds.nih.gov/

Canadian Association for Familial Ataxias - Claude St-Jean Foundation
3800 Radisson Street
Suite 110
Montreal
Quebec, Intl H1M 1X6
Canada
Tel: (514) 321-8684
Email: ataxie@lacaf.org
Internet: http://www.lacaf.org

MUMS National Parent-to-Parent Network
150 Custer Court
Green Bay, WI 54301-1243
USA
Tel: (920)336-5333
Fax: (920)339-0995
Tel: (877)336-5333
Email: mums@netnet.net
Internet: http://www.netnet.net/mums/

Genetic and Rare Diseases (GARD) Information Center
PO Box 8126
Gaithersburg, MD 20898-8126
Tel: (301)251-4925
Fax: (301)251-4911
Tel: (888)205-2311
TDD: (888)205-3223
Email: ordr@od.nih.gov
Internet: http://rarediseases.info.nih.gov/Default.aspx

For a Complete Report

For a Complete Report

This is an abstract of a report from the National Organization for Rare Disorders, Inc. ® (NORD). A copy of the complete report can be obtained for a small fee by visiting the NORD website. The complete report contains additional information including symptoms, causes, affected population, related disorders, standard and investigational treatments (if available), and references from medical literature. For a full-text version of this topic, see http://www.rarediseases.org/search/rdblist.html

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