Clonic hemifacial spasm

General Information (adopted from Orphanet):

Synonyms, Signs: Facial hemispasm
Focal myoclonus of face
Number of Symptoms 3
OrphanetNr: 221083
OMIM Id: 141405
ICD-10: G51.3
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance: Autosomal dominant inheritance
[Omim]
Age of onset:

Disease classification (adopted from Orphanet):

Parent Diseases: Acquired peripheral movement disorder
 -Rare neurologic disease

Symptom Information: Sort by abundance 

1
(HPO:0010828) Hemifacial spasm 3 / 7739
2
(HPO:0000006) Autosomal dominant inheritance 2518 / 7739
3
(OMIM) Orbicularis oculi muscle twitching 1 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Description: (OMIM) 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 ...
Clinical Description OMIM Miwa et al. (2002) reported 10 patients from 5 families with familial hemifacial spasm. The mean age at onset was 50.6 years, and 8 were affected on the left side. Most had relief with botulinum toxin injection. The ...