Episodic ataxia type 8

Summary

Episodic ataxia type 8 (MONDO:0014476) is a disease. A subtype of hereditary episodic ataxia — broader associated-gene and molecular evidence is on the parent page (see Disease family below).

At a glance

• Prevalence: <1 / 1 000 000 (Worldwide) [Orphanet-validated]
• Phenotypes (HPO): 10

Clinical features

Epidemiology

Prevalence records

2 prevalence record(s), Orphanet:

Type	Class	Value	Geography	Validation
Cases/families		13	Worldwide	Validated
Point prevalence	<1 / 1 000 000		Worldwide	Validated

Signs & symptoms

Clinical features (HPO)

10 HPO clinical features (Orphanet curated; top 10 by frequency):

HPO ID	Term	Frequency
HP:0001324	Muscle weakness	Very frequent (80-99%)
HP:0001350	Slurred speech	Very frequent (80-99%)
HP:0002172	Postural instability	Very frequent (80-99%)
HP:0000639	Nystagmus	Frequent (30-79%)
HP:0001260	Dysarthria	Frequent (30-79%)
HP:0001337	Tremor	Frequent (30-79%)
HP:0002066	Gait ataxia	Frequent (30-79%)
HP:0012547	Abnormal involuntary eye movements	Frequent (30-79%)
HP:0002076	Migraine	Occasional (5-29%)
HP:0002411	Myokymia	Occasional (5-29%)

Identifiers

Disease identifiers

Field	Value
Canonical name	episodic ataxia type 8
Mondo ID	MONDO:0014476
OMIM	616055
Orphanet	401953
DOID	DOID:0050996
UMLS	C4015108
MedGen	863545
GARD	0017665
Is cancer (heuristic)	no

Also known as: EA8 · episodic ataxia type 8 · episodic ataxia, type 8

Disease family

This is a subtype of hereditary episodic ataxia. Genetic, therapeutic, and trial evidence is largely curated at the broader-term level — see the parent page for the associated-gene cohort and molecular evidence.

Classification path: disease › human disease › disease by body system or component › nervous system disorder › atactic disorder › hereditary ataxia › hereditary episodic ataxia › episodic ataxia type 8

Related subtypes (8): episodic ataxia type 2, episodic ataxia type 1, episodic ataxia type 4, episodic ataxia type 3, episodic ataxia type 7, episodic ataxia type 6, episodic ataxia type 5, episodic ataxia, type 9

Genetics & variants

GWAS landscape

No GWAS associations recorded — common-variant (GWAS) studies don’t cover this disease (typical for Mendelian / rare diseases). See the curated gene cohort and Mendelian overlap below.

Variant details and genetic-evidence tiers

No tiered GWAS variants or ClinVar records for this disease.

Genes & proteins

No associated-gene cohort resolved for this disease. Atlas builds the molecular and therapeutic sections — associated genes, protein families, druggability, pathways, interactions, and drug associations — by aggregating over a disease’s associated genes (resolved via GWAS / GenCC / ClinVar / CIViC), and none resolved here. This is expected for antibody-mediated, autoimmune, or otherwise non-gene-defined conditions; the curated evidence for this disease is its clinical features, GWAS susceptibility, and clinical trials (above).

Function

No pathway enrichment — requires an associated-gene cohort.

Therapeutics

No druggable-target or therapeutic data for this disease’s cohort.

Clinical trials & evidence

Clinical trials

Clinical trials: 0.