Ataxia due to Cerebrotendinous xanthomatosis

Description

Ataxia in the setting of cerebrotendinous xanthomatosis, a rare autosomal recessive disorder of bile acid metabolism caused by a mutation in the CYP27A1 gene encoding mitochondrial enzyme sterol 27-hydroxylase. Accumulation of sterols in multiple tissues leads to premature cataracts and tendon xanthomas in late childhood, followed by progressive neurological dysfunction such as ataxia, dementia, and polyneuropathy.

Index terms

Ataxia due to Cerebrotendinous xanthomatosis

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
8A03.12 – Ataxia due to Refsum disease
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 Cerebrotendinous xanthomatosis – http://id.who.int/icd/entity/361859443

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