Ataxia with vitamin E deficiency

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Disease 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.[11831][11832]


Synonyms

  • 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
  • Friedreich-like ataxia
  • Isolated vitamin E deficiency

For more information, visit GARD.

National Organization for Rare Disorders