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.
Immunodeficiency with Ataxia Telangiectasia
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.
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: email@example.com 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: firstname.lastname@example.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: email@example.com 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: firstname.lastname@example.org Internet: http://www.movementdisorders.org
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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
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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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