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Ataxia with vitamin E deficiency

ORPHA:96· ICD-10 G11.1

Definition

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

Prevalence
1-9 / 1 000 000
Inheritance
Autosomal recessive
Age of onset
All ages