Catalog
Ataxia due to Refsum disease
Link to WHO Definition
Ataxia due to Refsum disease – http://id.who.int/icd/entity/2055588684
Ataxia in the setting of Refsum disease, a rare autosomal recessive disorder caused by a mutation in the PHYH gene coding for peroxisomal phytanoyl-CoA hydroxylase or PEX7, coding for peroxin 7 receptor protein. Onset is usually in late childhood, initially presenting with retinitis pigmentosa, with progression to ataxia and chronic polyneuropathy.