Ataxia due to Refsum disease

Description

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.

Index terms

Ataxia due to Refsum disease

Exclusions from above levels

http://id.who.int/icd/entity/155258022 – Metabolic disorders
http://id.who.int/icd/entity/76906748 – Cerebral palsy
6A06 – Stereotyped movement disorder

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05 – Endocrine, nutritional or metabolic diseases
18 – Complications of pregnancy, childbirth and the puerperium
19 – Certain conditions originating in the perinatal period
22 – Injury, poisoning or certain other consequences of external causes

Sibling codes

8A03.10 – Friedreich ataxia
8A03.11 – Ataxia due to Cerebrotendinous xanthomatosis
8A03.13 – Ataxia due to abetalipoproteinemia
8A03.14 – Hereditary episodic ataxia
8A03.15 – Ataxia due to mitochondrial mutations
8A03.16 – Spinocerebellar ataxia
8A03.1Y – Other specified hereditary ataxia
8A03.1Z – Hereditary ataxia, unspecified

Foundation entity

Ataxia due to Refsum disease – http://id.who.int/icd/entity/2055588684

Part of: 8A03.1: Hereditary ataxia › 8A03: Ataxic disorders › 08: Diseases of the nervous system