Condition: Ataxia with Vitamin E Deficiency

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About Ataxia with Vitamin E Deficiency

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.)
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Last updated on Nov 20 2018 at 16:04
Disclaimer: The list and ratings above are for informational purposes only, and is intended to supplement, not substitute for, the expertise and judgment of your physician, pharmacist or other healthcare professional. The goal of the information is to provide you with a comprehensive view of all available treatments, but should not be construed to indicate that use of any one treatment is safe, appropriate, or effective for you. Decisions about use of a new treatment, or about a change in your current treatment plan, should be in consultation with your doctor or other healthcare professional.