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Copyright 1989, 1990, 2003, 2004
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 FriedreichÂ’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.)
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Organizations related to Ataxia with Vitamin E Deficiency
- Canadian Association for Familial Ataxias - Claude St-Jean Foundation
3800 Radisson Street
Suite 110
Montreal
Quebec Intl H1M 1X6
Phone #: (51-4) -321-8684
800 #: --
e-mail: ataxie@lacaf.org
Home page: http://www.lacaf.org
- Friedreich's Ataxia Research Alliance
102 Pickering Way, Suite 200
Exton VA 19341
Phone #: 484-875-3015
800 #: --
e-mail: info@cureFA.org
Home page: http://www.curefa.org
- Genetic and Rare Diseases (GARD) Information Center
PO Box 8126
Gaithersburg MD 20898-8126
Phone #: 301-251-4925
800 #: 888-205-2311
e-mail: http://rarediseases.info.nih.gov/GARD/EmailForm.aspx
Home page: http://rarediseases.info.nih.gov/GARD
- March of Dimes Birth Defects Foundation
1275 Mamaroneck Avenue
White Plains NY 10605
Phone #: 914-997-4488
800 #: 888-663-4637
e-mail: Askus@marchofdimes.com
Home page: http://www.marchofdimes.com
- National Ataxia Foundation
2600 Fernbrook Lane, 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)
P.O. Box 5801
Bethesda MD 20824
Phone #: 301-496-5751
800 #: 800-352-9424
e-mail: me20t@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
9 Winchester Hous
Kennington Park
Cranmer Road
London Intl SW9 6EJ
Phone #: +44- (0-)207 582 1444
800 #: --
e-mail: marco.meinders@euro-ataxia.eu
Home page: http://www.euro-ataxia.eu/
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