Hemifacial spasm
Synonyms: Facial hemispasm · Focal myoclonus of face
- Type
- Disease
- Group
- Disorder
- Age of onset
- Adult, Elderly
- Status
- active
A rare primary myoclonus characterized by progressive, involuntary, irregular, clonic or tonic contractions of the muscles innervated by the facial nerve (cranial nerve VII). The symptoms are typically strictly unilateral, mostly persist during sleep, and often occur in the region of the orbicularis oculi muscle first and gradually spread to other parts of the affected half of the face as the disease progresses. Both familial and acquired forms are reported.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Hemifacial spasm | Facial hemispasm · Focal myoclonus of face |
| fr | Spasme hémifacial | Hémispasme facial · Myokymie hémifaciale |
| de | Hemifazialer Spasmus | Fazialer Hemispasmus · Myoklonie, fokale, des Gesichts |
| es | Espasmo hemifacial | Hemiespasmo facial · Mioclonía focal de la cara |
| it | Spasmo emifacciale | Emispasmo facciale · Mioclono focale facciale |
| nl | Hemifaciaal spasme | Faciaal hemispasme · Focale myoclonus van aangezicht |
| pt | Espasmo hemifacial clónico | |
| pl | Kloniczny skurcz połowy twarzy | Ogniskowy mioklonus twarzy · Połowiczy kurcz twarzy |
| cs | Klonický hemifaciální spasmus | Faciální hemispasmus · Fokální myoklonus tváře |
| uk | Геміфаціальний спазм | Лицьовий геміспазм · Фокальний міоклонус обличчя |
| zh | 偏侧面肌痉挛 | 偏侧面肌痉挛 |
| tr | Hemifasiyal spazm | Fasiyal hemispazmı · Yüzün odak miyoklonusu |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| ICD-10 | G51.3 | E | specific | validated |
| ICD-11 | 8B88.2 | E | specific | validated |
| MeSH | D019569 | E | validated | |
| UMLS | C1841639 | 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:306750Primary myoclonus
rare genetic diseases; rare neurological diseases
No children.
Genes
0 directOrphanet records no gene directly on this code.
Prevalence and incidence
1 record| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Point prevalence | 1-5 / 10 000 | 10.95 / 100 000 | Worldwide | Value and class | Validated | 30252364[PMID]_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/221083
- This record as JSON: /data/d/221083.json