Hereditary episodic ataxia
- Type
- Category
- Group
- Group of disorders
- Status
- active
A group of rare hereditary ataxia 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 episodic ataxia have been described to date (type 1 to type 7), but most of the reported cases are belong to type 1 and 2.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Hereditary episodic ataxia | |
| fr | Ataxie épisodique héréditaire | |
| de | Episodische Ataxie, hereditäre | |
| es | Ataxia episódica hereditaria | |
| it | Atassia episodica ereditaria | |
| nl | Erfelijke episodische ataxie | |
| pt | Ataxia episódica hereditária | |
| pl | Dziedziczna ataksja epizodyczna | |
| cs | Hereditární epizodická ataxie | |
| uk | Спадкова епізодична атаксія | |
| zh | 遗传性周期性小脑共济失调 | |
| tr | Kalıtsal epizodik ataksi |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| ICD-11 | 8A03.14 | E | specific | validated |
| MONDO | 0016227 | E | validated | |
| MONDO | 16227 | E | validated | |
| MeSH | C580065 | E | validated | |
| UMLS | C1720189 | E | validated |
E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.
Classification
Preferential parent (Orphanet linearisation):
Parents in the classifications (1):
- ORPHA:183518Hereditary ataxia
rare genetic diseases; rare neurological diseases
Genes
0 directOrphanet records no gene directly on this code.
Prevalence and incidence
1 record| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Point prevalence | 1-9 / 100 000 | — | Worldwide | Class only | Not yet validated | ORPHANET |
Value is Orphadata's ValMoy: the mean estimate per 100 000 for prevalence and incidence, the number of cases or families for case reports.
HPO phenotypes
Orphanet has no HPO annotation for this code in this release.
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/211062
- This record as JSON: /data/d/211062.json