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episodic ataxia type 3 - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

episodic ataxia type 3

MONDO:0011682

Also known as:episodic ataxia-vertigo-tinnitus-myokymia syndromeEA3ataxia, episodic, with vertigo and tinnitus

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Overview

Episodic ataxia type 3 (EA3) is a very rare form of Hereditary episodic ataxia characterized by vestibular ataxia, vertigo, tinnitus, and interictal myokymia.

GeneticsAutosomal dominant

Clinical Trials1 registered · 1 recruiting

Clinical Presentation

Built from Human Phenotype Ontology (HPO) phenotype annotations and GeneReviews clinical descriptions. Features represent findings documented across known cases — not an exhaustive list of possible symptoms.

Features include: Myokymia, Diplopia, Vomiting, and Vertigo and 5 more.

Organ System	Phenotype Count	Example Features
Digestive system	2	Vomiting, Nausea
Ears

Diagnosis

Biomarker and diagnostic research for episodic ataxia type 3 has been reported in the published literature.

Prognosis

Estimated prevalence: <1 in 1,000,000 (VERY_RARE).

Research Landscape

Sourced from ClinicalTrials.gov and PubMed. Publication types are classified using NLM-curated article metadata; research type breakdowns reflect the nature of published work for this disease.

1 clinical trial registered, 1 recruiting. Interventions under study include other interventions. Research is primarily sponsored by academic and government institutions.

115 publications have been identified in PubMed for episodic ataxia type 3. Kisho has analyzed 71 by research type. Research spans Review / Meta-Analysis (45%), Case Report / Case Series (18%), and Epidemiology / Natural History (18%).

Research Type	Count	% of Total
Research summaries	32

Data assembled from 6 of 12 sources · Last updated Sep 19, 2026, 6:53 PM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:606554

Orphanet

European rare disease database

Orphanet:79135

GARD

Genetic and Rare Diseases Info Center

GARD:16702

Questions for Your Care Team

→Are any of the 1 active clinical trial a good fit for my situation?
→Are there specialists or centers of excellence for this condition in my area?
→Is there a patient registry I should consider joining?

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episodic ataxia type 3

Overview

Clinical Presentation

Diagnosis

Prognosis

Research Landscape

Medical References

External Resources

OMIM

Orphanet

GARD

Questions for Your Care Team

Questions for Your Care Team

Explore clinical features

Recent Publications

episodic ataxia type 3

Overview

Clinical Presentation

Diagnosis

Prognosis

Research Landscape

Medical References

External Resources

OMIM

Orphanet

GARD

Related Diseases

Questions for Your Care Team

Questions for Your Care Team

Explore clinical features

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