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Clonic hemifacial spasm

MedGen UID:
374760
Concept ID:
C1841639
Disease or Syndrome
Synonym: Hemifacial spasm, familial
 
Monarch Initiative: MONDO:0007713
OMIM®: 141405
Orphanet: ORPHA221083

Definition

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). [from OMIM]

Clinical features

From HPO
Hemifacial spasm
MedGen UID:
75813
Concept ID:
C0278152
Disease or Syndrome
Intermittent clonic or tonic contraction of muscles supplied by facial nerve. Muscles are relaxed in between contractions.
Abnormality of the nervous system
MedGen UID:
105425
Concept ID:
C0497552
Congenital Abnormality
An abnormality of the nervous system.

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVClonic hemifacial spasm
Follow this link to review classifications for Clonic hemifacial spasm in Orphanet.

Professional guidelines

PubMed

Wabbels B, Roggenkämper P
J Neural Transm (Vienna) 2012 Aug;119(8):963-80. Epub 2012 Jan 10 doi: 10.1007/s00702-011-0762-y. PMID: 22231846
Yaltho TC, Jankovic J
Mov Disord 2011 Aug 1;26(9):1582-92. Epub 2011 Apr 5 doi: 10.1002/mds.23692. PMID: 21469208
Wang A, Jankovic J
Muscle Nerve 1998 Dec;21(12):1740-7. doi: 10.1002/(sici)1097-4598(199812)21:12<1740::aid-mus17>3.0.co;2-v. PMID: 9843077

Supplemental Content

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