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

AVED
Isolated Vitamin E Deficiency
Familial Isolated Vitamin E Deficiency

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)428-7100
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 55447-4752
USA
Tel: 7635530020
Fax: 7635530167
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@international.org
Internet: http://www.rpinternational.org

National Scoliosis Foundation
5 Cabot Place
Stoughton, MA 02072
Tel: (781)341-6333
Fax: (781)341-8333
Tel: (800)673-6922
Email: nsf@scoliosis.org
Internet: http://www.scoliosis.org

National Institute of Neurological Disorders and Stroke (NINDS)
31 Center Drive
8A07
Bethesda, MD 20892-2540
Tel: (301)496-5751
Fax: (301)402-2186
Tel: (800)352-9424
Email: braininfo@ninds.nih.gov
Internet: http://www.ninds.nih.gov/

euro-ATAXIA
Boherboy, Dunlavin
Co Wicklow, Intl
Ireland
Tel: 353 45 401218/401478
Fax: 353 45 401371
Email: mary.kearney@euro-ataxia.org
Internet: http://www.euro-ataxia.org

Friedreich's Ataxia Research Alliance
P.O. Box 1537
Springfield, VA 22151
USA
Tel: 7034261576
Fax: 7034134467
Email: fara@CureFA.org
Internet: http://www.CureFA.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

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: 9/10/2004
Copyright 1989, 1990, 2003, 2004 National Organization for Rare Disorders, Inc.

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