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hereditary episodic ataxia

Disease Summary
Associated Targets (5)
Tchem

3

Tclin

1

Tbio

1


GARD Rare
Mondo Description Hereditary episodic ataxia (EA) represents a group of neurological disorders 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 EA have been described to date (EA type 1 to EA type 7), but most of the reported cases belong to EA1 and EA2.
Disease Ontology Description A hereditary ataxia characterized by sporadic bouts of ataxia with or without continuous muscle movement.
Mondo Term and Equivalent IDs
MONDO:0016227:  hereditary episodic ataxia
EFO:1000638: 
GARD:0009851: 
OMIMPS:160120: 
Orphanet:211062: 
SCTID:421455009: 
UMLS:C1720189: