Hereditary episodic ataxia

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Hereditary episodic ataxia

ORPHA:211062Category

What it is

A group of rare hereditary ataxia characterized by recurrent episodes of ataxia and vertigo which may be progressive. Weakness, dystonia and ataxia are sometimes present in the interictal period. Seven types of episodic ataxia have been described to date (type 1 to type 7), but most of the reported cases are belong to type 1 and 2.

Key facts

Prevalence
1-9 / 100 000
Classified as
Category

Prevalence figures describe populations, not individuals, and are often estimates from a single study. Where the figure is an incidence or a birth prevalence, it says so.

Genes reported in subtypes

CACNA1ACACNB4KCNA1SLC1A3

Orphanet records these genes on 4 more specific entries under this disorder, not on this entry itself:

A well-studied disease is usually split into subtypes, and the gene is curated on whichever one the evidence belongs to. Open a subtype to see which gene goes with it.

Cross-references

MESH C580065MONDO 0016227MONDO 16227UMLS C1720189

Orphadata Science: Free access data from Orphanet. © INSERM 1999. Data version 2026-06-23. Available under CC BY 4.0. This is a reference, not medical advice.

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