ICD·index Chapters ENESDE
8A03.12 category

Ataxia due to Refsum disease

Definition

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.

Also indexed as

Ataxia due to Refsum disease

Nearby in Hereditary ataxia