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    Ataxia with Vitamin E Deficiency

    Important
    It is possible that the main title of the report Ataxia with Vitamin E Deficiency 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

    Disorder Subdivisions

    • None

    General Discussion

    Ataxia with vitamin E deficiency (AVED) is a rare inherited neurodegenerative disorder characterized by impaired ability to coordinate voluntary movements (ataxia) and disease of the peripheral nervous system (peripheral neuropathy). AVED is a progressive disorder that can affect many different systems of the body (multisystem disorder). Specific symptoms vary from case to case. In addition to neurological symptoms, affected individuals may experience eye abnormalities, disorders affecting the heart muscles (cardiomyopathy), and abnormal curvature of the spine (scoliosis). AVED is extremely similar to a more common disorder known as Friedreich's ataxia. AVED is inherited as an autosomal recessive trait.

    Vitamin E deficiency often occurs secondary to disorders that impair the absorption of vitamin E from fat including liver disorders, disorders of fat metabolism, and disorders of bile secretion. These disorders include cholestasis (a syndrome of various causes characterized by impaired bile secretion); cystic fibrosis (primarily a lung disorder that may also affect bile secretion); primary biliary cirrhosis (a liver disorder that results in cholestasis); and abetalipoproteinemia (a digestive disorder characterized by fat malabsorption). Premature infants may have a low vitamin E reserve because only small amounts of vitamin E cross the placenta, and therefore they may become deficient if fed a formula high in unsaturated fats and low in vitamin E. In rare cases, vitamin E deficiency may be caused by a poor diet. (For more information on the above disorders, choose the specific disorder name your search term in the Rare Disease Database.)

    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

    Retinitis Pigmentosa International
    P.O. Box 900
    Woodland Hills, CA 91365
    Tel: (818)992-0500
    Fax: (818)992-3265
    Tel: (800)344-4877
    Email: info@rpinternational.org
    Internet: http://www.rpinternational.org

    National Scoliosis Foundation
    5 Cabot Place
    Stoughton, MA 02072
    Tel: (781)341-8333
    Fax: (781)341-8333
    Tel: (800)673-6922
    Email: nsf@scoliosis.org
    Internet: http://www.scoliosis.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/

    euro-ATAXIA
    Lincoln House
    Kennington Park
    1-3 Brixton Road
    London, SW9 6DE
    United Kingdom
    Tel: 4402075821444
    Email: marco.meinders@euro-ataxia.eu
    Internet: http://www.euro-ataxia.eu/

    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

    Friedreich's Ataxia Research Alliance
    533 W. Uwchlan Ave.
    Downingtown, VA 19335
    USA
    Tel: (484)879-6160
    Fax: (484)872-1402
    Email: info@cureFA.org
    Internet: http://www.curefa.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/

    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: 4/10/2008
    Copyright 1989, 1990, 2003, 2004 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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