Diseases & Conditions


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Ataxia with Vitamin E Deficiency


Synonyms of Ataxia with Vitamin E Deficiency
  • AVED
  • Familial Isolated Vitamin E Deficiency
  • Isolated Vitamin E Deficiency

Disorder Subdivisions



    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.)

    Organizations related to Ataxia with Vitamin E Deficiency
    • Friedreich's Ataxia Research Alliance
      P.O. Box 1537
      Springfield VA 22151
      Phone #: 703-426-1576
      800 #: --
      e-mail: fara@CureFA.org
      Home page: http://www.CureFA.org
    • March of Dimes Birth Defects Foundation
      1275 Mamaroneck Avenue
      White Plains NY 10605
      Phone #: 914-428-7100
      800 #: 888-663-4637
      e-mail: Askus@marchofdimes.com
      Home page: http://www.marchofdimes.com
    • National Ataxia Foundation
      2600 Fernbrook Lane n, Suite 119
      Minneapolis MN 55447-4752
      Phone #: 763-553-0020
      800 #: --
      e-mail: naf@ataxia.org
      Home page: http://www.ataxia.org
    • National Institute of Neurological Disorders and Stroke (NINDS)
      31 Center Drive
      Bethesda MD 20892-2540
      Phone #: 301-496-5751
      800 #: 800-352-9424
      e-mail: braininfo@ninds.nih.gov
      Home page: http://www.ninds.nih.gov/
    • National Scoliosis Foundation
      5 Cabot Place
      Stoughton MA 02072
      Phone #: 781-341-6333
      800 #: 800-673-6922
      e-mail: nsf@scoliosis.org
      Home page: http://www.scoliosis.org
    • Retinitis Pigmentosa International
      P.O. Box 900
      Woodland Hills CA 91365
      Phone #: 818-992-0500
      800 #: 800-344-4877
      e-mail: info@international.org
      Home page: http://www.rpinternational.org
    • euro-ATAXIA
      Boherboy, Dunlavin
      Co Wicklow Intl None
      Phone #: 353- 45- 401218/401478
      800 #: --
      e-mail: mary.kearney@euro-ataxia.org
      Home page: http://www.euro-ataxia.org



    For a Complete Report

    This is an abstract of a report from the National Organization for Rare Disorders, Inc. ? (NORD). A copy of the complete report can be obtained for a small fee by visiting the NORD website. The complete report contains additional information including symptoms, causes, affected population, related disorders, standard and investigational treatments (if available), and references from medical literature. For a full-text version of this topic, see http://www.rarediseases.org/search/rdblist.html