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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

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. #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.communityatcp.org



American Cancer Society, Inc.

250 Williams NW St

Ste 6000

Atlanta, GA 30303

USA

Tel: (404)320-3333

Tel: (800)227-2345

TDD: (866)228-4327

Internet: http://www.cancer.org



American Diabetes Association

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



NIH/National Institute of Neurological Disorders and Stroke

P.O. Box 5801

Bethesda, MD 20824

Tel: (301)496-5751

Fax: (301)402-2186

Tel: (800)352-9424

TDD: (301)468-5981

Internet: http://www.ninds.nih.gov/



Canadian Association for Familial Ataxias - Claude St-Jean Foundation

3800 Radisson Street Office 110

Montreal

Quebec, H1M 1X6

Canada

Tel: 5143218684

Tel: 8553218684

Email: ataxie@lacaf.org

Internet: http://www.lacaf.org



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

Internet: http://rarediseases.info.nih.gov/GARD/



Movement Disorder Society

555 E. Wells Street

Suite 1100

Milwaukee, WI 53202-3823

Tel: (414)276-2145

Fax: (414)276-3349

Email: info@movementdisorders.org

Internet: http://www.movementdisorders.org



For a Complete Report

This is an abstract of a report from the National Organization for Rare Disorders (NORD). A copy of the complete report can be downloaded free from the NORD website for registered users. The complete report contains additional information including symptoms, causes, affected population, related disorders, standard and investigational therapies (if available), and references from medical literature. For a full-text version of this topic, go to MyD-H, the Dartmouth-Hitchcock patient portal. You must be a registered MyD-H user for the Lebanon, Manchester, or Nashua locations to access this site.

The information provided in this report is not intended for diagnostic purposes. It is provided for informational purposes only. NORD recommends that affected individuals seek the advice or counsel of their own personal physicians.

It is possible that the title of this topic is not the name you selected. Please check the Synonyms listing to find the alternate name(s) and Disorder Subdivision(s) covered by this report

This disease entry is based upon medical information available through the date at the end of the topic. Since NORD's resources are limited, it is not possible to keep every entry in the Rare Disease Database completely current and accurate. Please check with the agencies listed in the Resources section for the most current information about this disorder.

For additional information and assistance about rare disorders, please contact the National Organization for Rare Disorders at P.O. Box 1968, Danbury, CT 06813-1968; phone (203) 744-0100; web site www.rarediseases.org or email orphan@rarediseases.org

Last Updated:  8/17/2007

Copyright  1987, 1990, 1992, 1996, 1997, 1998, 1999, 2000, 2004, 2007 National Organization for Rare Disorders, Inc.

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