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    Ataxia Telangiectasia

    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 www.rarediseases.org and click on Rare Disease Database under "Rare Disease Information".

    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.

    WebMD Medical Reference from the National Organization for Rare Disorders

    Last Updated: May 28, 2015
    This information is not intended to replace the advice of a doctor. Healthwise disclaims any liability for the decisions you make based on this information.

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