National Organization for Rare Disorders, Inc.
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.
- Cerebello-Oculocutaneous Telangiectasia
- Immunodeficiency with Ataxia Telangiectasia
- Louis-Bar Syndrome
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.
American Cancer Society, Inc.
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American Diabetes Association
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Ataxia Telangiectasia Children's Project, Inc (A-T)
- 5300 W. Hillsboro Blvd. #105
- Coconut Creek, FL 33073
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- Website: http://www.communityatcp.org
Ataxia-Telangiectasia Society (UK)
- IACR-Rothamsted Research
- Hertfordshire, AL5 2JQ
- United Kingdom
- Tel: 4401582760733
- Fax: 4401582760162
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- Website: http://www.atsociety.org.uk
Genetic and Rare Diseases (GARD) Information Center
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- Tel: (888)205-2311
- Website: http://rarediseases.info.nih.gov/GARD/
March of Dimes Birth Defects Foundation
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- White Plains, NY 10605
- Tel: (914)997-4488
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- Website: http://www.marchofdimes.com
Movement Disorder Society
- 555 E. Wells Street
- Suite 1100
- Milwaukee, WI 53202-3823
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NIH/National Institute of Neurological Disorders and Stroke
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National Ataxia Foundation
- 2600 Fernbrook Lane Suite 119
- Minneapolis, MN 55447
- Tel: (763)553-0020
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- Website: http://www.ataxia.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 www.rarediseases.org and click on Rare Disease Database under "Rare Disease Information".
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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
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 firstname.lastname@example.org
Last Updated: 1/10/1970
Copyright 2007 National Organization for Rare Disorders, Inc.
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