ICD-11 classes
08 Diseases of the nervous system
Movement disorders
8A03 — Ataxic disorders
8A03.1 — Hereditary ataxia
8A03.12 — Ataxia due to Refsum disease

ICD-11 8A03.12 — Ataxia due to Refsum disease

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 is usually in late childhood, initially presenting with retinitis pigmentosa, with progression to ataxia and chronic polyneuropathy.

The diagnosis includes nothing.

The diagnosis excludes nothing.

It has no clarifying diagnoses.