ORPHA:37612
Episodic ataxia type 1
Synonyms: Episodic ataxia with myokymia
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal dominant
- Age of onset
- Adolescent, Childhood
- Status
- active
A frequent form of Hereditary episodic ataxia characterized by brief episodes of ataxia, neuromyotonia, and continuous interictal myokymia.
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Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Episodic ataxia type 1 | Episodic ataxia with myokymia |
| fr | Ataxie épisodique type 1 | Ataxie épisodique avec myokymie |
| de | Ataxie, episodische, Typ 1 | Ataxie, episodische, mit Myokymie |
| es | Ataxia episódica tipo 1 | |
| it | Atassia episodica, tipo 1 | Atassia episodica con miochimia |
| nl | Episodische ataxie type 1 | Episodische ataxie met myokymie |
| pt | Ataxia episódica tipo 1 | Ataxia episódica com mioquimia |
| pl | Ataksja epizodyczna typu 1 | Ataksja epizodyczna z miokinią |
| cs | Epizodická ataxie, typ 1 | Epizodická ataxie s myokymií |
| uk | Епізодична атаксія, тип 1 | Епізодична атаксія з міокімією |
| zh | 发作性共济失调I型 | 发作性共济失调伴肌纤维颤搐 |
| tr | Epizodik ataksi tip 1 | Miyokimi ile seyreden epizodik ataksi |
Definition in:
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 160120 | E | validated | |
| ICD-10 | G11.8 | NTBT | attributed | validated |
| ICD-11 | 8A03.14 | NTBT | index | validated |
| MONDO | 0008047 | E | validated | |
| MeSH | C563278 | E | validated | |
| UMLS | C1719788 | E | validated |
E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.
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Classification
Preferential parent (Orphanet linearisation):
Parents in the classifications (3):
- ORPHA:211062Hereditary episodic ataxia
rare genetic diseases; rare neurological diseases - ORPHA:166472Monogenic disease with epilepsy
rare genetic diseases; rare neurological diseases - ORPHA:98746Neurological channelopathy of the central nervous system due to a genetic potassium channel defect
rare genetic diseases
No children.
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Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| KCNA1 | Disease-causing germline mutation(s) in | Assessed | HGNC:6218 | ENSG00000111262 | 176260 | 12p13.32 | potassium voltage-gated channel subfamily A member 1 | 20301785[PMID] |
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Prevalence and incidence
1 record| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Point prevalence | Unknown | — | 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.
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HPO phenotypes
27 annotations · validated 2018-04-06| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0002411 | Myokymia | |
| HP:0002370 | Poor coordination | |
| HP:0002172 | Postural instability | |
| Frequent (79-30%) | ||
| HP:0000622 | Blurred vision | |
| HP:0002312 | Clumsiness | |
| HP:0000651 | Diplopia | |
| HP:0001260 | Dysarthria | |
| HP:0002315 | Headache | |
| HP:0000975 | Hyperhidrosis | |
| HP:0003394 | Muscle spasm | |
| HP:0003552 | Muscle stiffness | |
| HP:0002018 | Nausea | |
| HP:0002321 | Vertigo | |
| Occasional (29-5%) | ||
| HP:0008981 | Calf muscle hypertrophy | |
| HP:0001272 | Cerebellar atrophy | |
| HP:0001266 | Choreoathetosis | |
| HP:0005461 | Craniofacial disproportion | |
| HP:0000750 | Delayed speech and language development | |
| HP:0001188 | Hand clenching | |
| HP:0001276 | Hypertonia | |
| HP:0002751 | Kyphoscoliosis | |
| HP:0001270 | Motor delay | |
| HP:0002486 | Myotonia | |
| HP:0002098 | Respiratory distress | |
| HP:0002650 | Scoliosis | |
| HP:0001328 | Specific learning disability | |
| HP:0030051 | Tip-toe gait | |
Run the differential on the 3 obligate / very frequent terms
Annotation source: 20301785[PMID]
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/37612
- This record as JSON: /data/d/37612.json