Hereditary episodic ataxia

Description

Autosomal dominant disorders associated with intermittent episodes of cerebellar dysfunction, with normal functioning or minimal ataxia and nystagmus between episodes. The two major subtypes include EA1 and EA2. EA1 is caused by a mutation of the KCNA1 gene coding and characterized by episodes triggered by exercise and muscle myokymia. EA2 is caused by a mutation in CACNA1A gene and involves more prolonged attacks of ataxia (lasting hours to days), and interictal residual ataxia with nystagmus.

Index terms

Hereditary episodic ataxia
Episodic ataxia type 6
Episodic ataxia type 7

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Episodic ataxia type 1 - KCNA1 mutation
Episodic ataxia type 1
Episodic ataxia type 3 - 1q42 mutation
Episodic ataxia type 4
Episodic ataxia type 5 - CACNB4 mutation
Episodic ataxia type 5
Episodic ataxia type 2 - CACNA1A mutation
Familial paroxysmal ataxia

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
8A03.12 – Ataxia due to Refsum disease
8A03.13 – Ataxia due to abetalipoproteinemia
8A03.15 – Ataxia due to mitochondrial mutations
8A03.16 – Spinocerebellar ataxia
8A03.1Y – Other specified hereditary ataxia
8A03.1Z – Hereditary ataxia, unspecified

Foundation entity

Hereditary episodic ataxia – http://id.who.int/icd/entity/423095680

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