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Diseases

Genetic and Rare Diseases Information Center (GARD)

Ataxia with vitamin E deficiency


Other Names for this Disease
  • AVED
  • Ataxia with isolated vitamin E deficiency
  • Familial isolated deficiency of vitamin E
  • Friedreich-like ataxia with selective vitamin E deficiency
  • Familial isolated vitamin E deficiency
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.

Overview

Ataxia with vitamin E deficiency (AVED) is a progressive disease affecting motor control and movement. Symptoms of AVED include slurred speech (dysarthria), difficulty coordinating movements (ataxia), numbness in the hands and feet (peripheral neuropathy), and progressive leg weakness. Some affected individuals may experience vision loss due to damage to the back of the eye (retinitis pigmentosa). Symptoms typically begin during childhood or adolescence and worsen with age, resulting in the need for a wheelchair by early adulthood. AVED is caused by a mutation to the TTPA gene. When this gene is damaged, vitamin E cannot be distributed throughout the body. Vitamin E is important because it protects the cells of the neurological system (neurons) from dangerous molecules called free radicals. AVED is inherited in an autosomal recessive manner. Treatment for AVED includes vitamin E supplements, which will prevent AVED from developing if given before symptoms begin and may reverse some neurological symptoms if begun after AVED develops.[1][2]
Last updated: 7/10/2016

References

  1. Ataxia with vitamin E deficiency. Genetics Home Reference; July 5 2016; https://ghr.nlm.nih.gov/condition/ataxia-with-vitamin-e-deficiency.
  2. Markus Schuelke. Ataxia with Vitamin E deficiency. GeneReviews; June 27, 2013; http://www.ncbi.nlm.nih.gov/books/NBK1241/.
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Basic Information

  • Genetics Home Reference (GHR) contains information on Ataxia with vitamin E deficiency. This website is maintained by the National Library of Medicine.
  • The National Organization for Rare Disorders (NORD) has a report for patients and families about this condition. NORD is a patient advocacy organization for individuals with rare diseases and the organizations that serve them.

In Depth Information

  • The Monarch Initiative brings together data about this condition from humans and other species to help physicians and biomedical researchers. Monarch’s tools are designed to make it easier to compare the signs and symptoms (phenotypes) of different diseases and discover common features. This initiative is a collaboration between several academic institutions across the world and is funded by the National Institutes of Health. Visit the website to explore the biology of this condition.
  • Online Mendelian Inheritance in Man (OMIM) is a catalog of human genes and genetic disorders. Each entry has a summary of related medical articles. It is meant for health care professionals and researchers. OMIM is maintained by Johns Hopkins University School of Medicine. 
  • Orphanet is a European reference portal for information on rare diseases and orphan drugs. Access to this database is free of charge.
  • PubMed is a searchable database of medical literature and lists journal articles that discuss Ataxia with vitamin E deficiency. Click on the link to view a sample search on this topic.
Other Names for this Disease
  • AVED
  • Ataxia with isolated vitamin E deficiency
  • Familial isolated deficiency of vitamin E
  • Friedreich-like ataxia with selective vitamin E deficiency
  • Familial isolated vitamin E deficiency
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.