Hemifacial spasm, familial

Preferred Label : Hemifacial spasm, familial;

Type : Other, mainly phenotypes with suspected mendelian basis;

Description : Hemifacial spasm is usually diagnosed in persons in their mid-forties. It often begins with involuntary clonic contractions or twitching of the orbicularis oculi muscle and progresses to involve the entire musculature innervated by the facial nerve (summary by Coad et al., 1991 and Miwa et al., 2002).;

Inheritance : Autosomal dominant;

Prefixed ID : 141405;

Details

Origin ID

141405;

UMLS CUI

C1841639;

Currated CISMeF NLP mapping
- hemifacial spasm, familial [MeSH concept]
- hemifacial spasm, familial [MeSH Supplementary Concept]
HPO term(s)
- Abnormality of the nervous system [HPO term]
- Autosomal dominant inheritance [HPO term]
- Hemifacial spasm [HPO term]
ORDO concept(s)
- Hemifacial spasm [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- hemifacial spasm, familial [MeSH Supplementary Concept]
- hemifacial spasm, familial [MeSH concept]
Validated automatic mappings to NTBT
- Hemifacial spasm [ORDO Disease]

Keyword's position in hierarchy(ies) :

You can consult :

recommendations
documents concerning education
documents for patients