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Ataxia with vitamin E deficiency

Disease definition

Ataxia with vitamin E deficiency (AVED) is a neurodegenerative disease belonging to the inherited cerebellar ataxias. It is mainly characterized by progressive spino-cerebellar ataxia, loss of proprioception, areflexia, and is associated with a marked deficiency in vitamin E.

ORPHA:96

  • Synonym(s):
    • AVED
    • Ataxia with isolated vitamin E deficiency
    • Familial isolated vitamin E deficiency
    • Friedreich-like ataxia
    • Isolated vitamin E deficiency
  • Prevalence: 1-9 / 1 000 000
  • Inheritance: Autosomal recessive 
  • Age of onset: All ages
  • ICD-10: G11.1
  • OMIM: 277460
  • UMLS: C1848533
  • MeSH: C535393
  • GARD: 8595
  • MedDRA: 10047631

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