/familial isolated deficiency of vitamin E

familial isolated deficiency of vitamin E

Rare Disease

MONDO:0010188

Also Known As

AVEDAtaxia with Vitamin E DeficiencyFriedreich-like ataxiaataxia with isolated vitamin E deficiencyfamilial isolated deficiency of vitamin type Efamilial isolated vitamin E deficiencyisolated vitamin E deficiencyFriedreich-like ataxia with selective vitamin E deficiencyVEDataxia with vitamin E deficiencyataxia, Friedreich-like, with selective vitamin E deficiencyvitamin E, familial isolated deficiency OF

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.