episodic ataxia type 5
Findings
No curated finding names episodic ataxia type 5 yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Episodic ataxia type 5 (EA5) is an extremely rare form of Hereditary episodic ataxia characterized by recurrent episodes of vertigo and ataxia lasting several hours.
Definition from the Mondo Disease Ontology (MONDO:0013464), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal dominant inheritance · Typified by incomplete penetrance
- Onset and course
- Juvenile onset · Young adult onset
HPO, annotations 2026-09-02
Features
14 features
What the disease is reported to present with, and how often among people who have it — never how often a feature means the disease. HPO, annotations 2026-09-02.
- AtaxiaHPOHP:0001251
- 1 of 9 reported patients
- Frequent (30% to 79% of cases)
- DysarthriaHPOHP:0001260
- 3 of 9 reported patients
- Frequent (30% to 79% of cases)
- Gaze-evoked nystagmusHPOHP:0000640
- 1 of 9 reported patients
- Frequent (30% to 79% of cases)
- Postural instabilityHPOHP:0002172
- 3 of 9 reported patients
- Frequent (30% to 79% of cases)
- Truncal ataxiaHPOHP:0002078
- 1 of 9 reported patients
- Frequent (30% to 79% of cases)
- VertigoHPOHP:0002321
Show the remaining 2
- MyoclonusHPOHP:0001336
- 1 of 9 reported patients
- Episodic ataxiaHPOHP:0002131
Genes
1 gene
Germline variants in the gene encoding each protein, as classified by GenCC submitters, each in their own words. Limited, disputed and refuted submissions are listed too.
- CACNB4HGNC:1404
- Supportive · Orphanet · Autosomal dominant · 2021
Where it sits
- A kind of
Other names
2 names
Resolves to: episodic ataxia type 5
- Also called
- CACNB4 hereditary episodic ataxiahereditary episodic ataxia caused by mutation in CACNB4