episodic ataxia type 2

ICD-10: G11.8MeSH: C535506ORPHA: 97

Overview

episodic ataxia characterized by acetazolamide-responsive attacks of ataxia lasting for hours/days (unlike EA1, which lasts up to minutes); caused by mutations in CACNA1A encoding P/Q-type voltage-gated calcium channel CaV2.1

Available Treatments (0)

No treatments linked yet

Clinical trials or compassionate use may be available — consult a specialist.

Clinical Presentation

Signs and symptoms associated with episodic ataxia type 2, sourced from HPO and Orphanet clinical annotations.

NystagmusAtaxiaVertigoTinnitusDiplopiaDysarthriaDystoniaNausea and vomitingMigraineHemiplegiaTorticollisAtypical behaviorIntellectual disabilityCerebellar vermis atrophy

Classification & Codes

ICD-10 Code

G11.8

MeSH Code

C535506

Orphanet Code

ORPHA:97
episodic ataxia type 2
ICD-10G11.8
MeSHC535506
OrphanetORPHA:97
Treatments0 drug(s)
Symptoms on record14 signs
Statuspublished
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO