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Hemifacial spasm

MedGen UID:
75813
Concept ID:
C0278152
Disease or Syndrome
Synonyms: Facial Spasm, Unilateral; Facial Spasms, Unilateral; Hemifacial Spasm; Hemifacial Spasms; Spasm, Hemifacial; Spasm, Unilateral Facial; Spasms, Hemifacial; Spasms, Unilateral Facial; Unilateral Facial Spasm; Unilateral Facial Spasms
SNOMED CT: Facial hemispasm (13753008); Hemifacial spasm (13753008); Focal myoclonus of face (13753008)
 
HPO: HP:0010828

Definition

Intermittent clonic or tonic contraction of muscles supplied by facial nerve. Muscles are relaxed in between contractions. [from HPO]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVHemifacial spasm

Conditions with this feature

Clonic hemifacial spasm
MedGen UID:
374760
Concept ID:
C1841639
Disease or Syndrome
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).
Joubert syndrome 1
MedGen UID:
1644883
Concept ID:
C4551568
Disease or Syndrome
Classic Joubert syndrome (JS) is characterized by three primary findings: A distinctive cerebellar and brain stem malformation called the molar tooth sign (MTS). Hypotonia. Developmental delays. Often these findings are accompanied by episodic tachypnea or apnea and/or atypical eye movements. In general, the breathing abnormalities improve with age, truncal ataxia develops over time, and acquisition of gross motor milestones is delayed. Cognitive abilities are variable, ranging from severe intellectual disability to normal. Additional findings can include retinal dystrophy, renal disease, ocular colobomas, occipital encephalocele, hepatic fibrosis, polydactyly, oral hamartomas, and endocrine abnormalities. Both intra- and interfamilial variation are seen.

Professional guidelines

PubMed

Tambasco N, Filidei M, Nigro P, Parnetti L, Simoni S
Toxins (Basel) 2021 Dec 9;13(12) doi: 10.3390/toxins13120881. PMID: 34941718Free PMC Article
Núñez Medrano JA, Fernández E, Georgescu D, Díaz Díaz AL, Graue Moreno G
Arch Soc Esp Oftalmol (Engl Ed) 2019 Sep;94(9):436-440. Epub 2019 Jul 2 doi: 10.1016/j.oftal.2019.03.018. PMID: 31272707
Hohman MH, Hadlock TA
Laryngoscope 2014 Jul;124(7):E283-93. Epub 2014 Jan 15 doi: 10.1002/lary.24542. PMID: 24431233

Recent clinical studies

Etiology

Fernández-Conejero I, Ulkatan S, Deletis V
Handb Clin Neurol 2022;186:163-176. doi: 10.1016/B978-0-12-819826-1.00016-8. PMID: 35772885
Jia A, Dou NN, Zhong J
Childs Nerv Syst 2022 Jul;38(7):1307-1312. Epub 2022 Apr 13 doi: 10.1007/s00381-022-05521-8. PMID: 35419625
Sindou M, Mercier P
Neurochirurgie 2018 May;64(2):106-116. Epub 2018 Feb 15 doi: 10.1016/j.neuchi.2018.01.001. PMID: 29454467
Deep NL, Graffeo CS, Copeland WR 3rd, Link MJ, Atkinson JL, Neff BA, Raghunathan A, Carlson ML
Laryngoscope 2017 Mar;127(3):715-719. Epub 2016 Jun 19 doi: 10.1002/lary.26126. PMID: 27320780
Lu AY, Yeung JT, Gerrard JL, Michaelides EM, Sekula RF Jr, Bulsara KR
ScientificWorldJournal 2014;2014:349319. Epub 2014 Oct 28 doi: 10.1155/2014/349319. PMID: 25405219Free PMC Article

Diagnosis

Walker C
JAAPA 2024 Feb 1;37(2):1-4. doi: 10.1097/01.JAA.0000995640.85221.b0. PMID: 38270661
Lefaucheur JP, Ben Daamer N, Sangla S, Le Guerinel C
Neurochirurgie 2018 May;64(2):82-86. Epub 2018 Apr 16 doi: 10.1016/j.neuchi.2017.12.003. PMID: 29673578
Yen MT
Int Ophthalmol Clin 2018 Winter;58(1):1. doi: 10.1097/IIO.0000000000000210. PMID: 29239872
Chaudhry N, Srivastava A, Joshi L
J Neurol Sci 2015 Sep 15;356(1-2):27-31. Epub 2015 Jun 16 doi: 10.1016/j.jns.2015.06.032. PMID: 26111430
Abbruzzese G, Berardelli A, Defazio G
Handb Clin Neurol 2011;100:675-80. doi: 10.1016/B978-0-444-52014-2.00048-3. PMID: 21496615

Therapy

Tambasco N, Filidei M, Nigro P, Parnetti L, Simoni S
Toxins (Basel) 2021 Dec 9;13(12) doi: 10.3390/toxins13120881. PMID: 34941718Free PMC Article
Blitzer AL, Phelps PO
Dis Mon 2020 Oct;66(10):101041. Epub 2020 Jul 1 doi: 10.1016/j.disamonth.2020.101041. PMID: 32622683
Yen MT
Int Ophthalmol Clin 2018 Winter;58(1):1. doi: 10.1097/IIO.0000000000000210. PMID: 29239872
Jankovic J
Mov Disord 2017 Aug;32(8):1131-1138. Epub 2017 Jun 22 doi: 10.1002/mds.27072. PMID: 28639368
Chaudhry N, Srivastava A, Joshi L
J Neurol Sci 2015 Sep 15;356(1-2):27-31. Epub 2015 Jun 16 doi: 10.1016/j.jns.2015.06.032. PMID: 26111430

Prognosis

Walker C
JAAPA 2024 Feb 1;37(2):1-4. doi: 10.1097/01.JAA.0000995640.85221.b0. PMID: 38270661
Lenka A, Jankovic J
Tremor Other Hyperkinet Mov (N Y) 2023;13:8. Epub 2023 Mar 28 doi: 10.5334/tohm.758. PMID: 37008994Free PMC Article
Vakharia K, Vakharia K
Facial Plast Surg Clin North Am 2016 Feb;24(1):1-10. doi: 10.1016/j.fsc.2015.08.001. PMID: 26611696
Hohman MH, Hadlock TA
Laryngoscope 2014 Jul;124(7):E283-93. Epub 2014 Jan 15 doi: 10.1002/lary.24542. PMID: 24431233
Harrison MS
J Laryngol Otol 1976 Jun;90(6):561-70. doi: 10.1017/s0022215100082451. PMID: 778316

Clinical prediction guides

Etemadifar M, Sabouri M, Zarepour M, Akhavan Sigari A, Salari M
Mult Scler Relat Disord 2022 Nov;67:104110. Epub 2022 Aug 13 doi: 10.1016/j.msard.2022.104110. PMID: 35988397
Holste K, Sahyouni R, Teton Z, Chan AY, Englot DJ, Rolston JD
World Neurosurg 2020 Jul;139:e383-e390. Epub 2020 Apr 16 doi: 10.1016/j.wneu.2020.04.001. PMID: 32305605Free PMC Article
Kaufmann AM, Price AV
J Neurosurg 2019 Feb 1;132(2):639-646. doi: 10.3171/2018.10.JNS181983. PMID: 30717044
Lee JM, Park HR, Choi YD, Kim SM, Jeon B, Kim HJ, Kim DG, Paek SH
J Neurosurg 2018 Aug;129(2):299-307. Epub 2017 Sep 1 doi: 10.3171/2017.3.JNS162869. PMID: 28862543
Hohman MH, Hadlock TA
Laryngoscope 2014 Jul;124(7):E283-93. Epub 2014 Jan 15 doi: 10.1002/lary.24542. PMID: 24431233

Recent systematic reviews

Hunsaker JC, Baker CM, Schmidt RH, Rahimpour S
J Clin Neurosci 2022 Jul;101:21-25. Epub 2022 May 2 doi: 10.1016/j.jocn.2022.04.038. PMID: 35512425
Sprenghers L, Lemmens R, van Loon J
Br J Neurosurg 2022 Jun;36(3):346-357. Epub 2022 Mar 22 doi: 10.1080/02688697.2022.2049701. PMID: 35313771
Li J, Lyu L, Chen C, Yin S, Jiang S, Zhou P
Neurosurg Rev 2022 Jun;45(3):2201-2210. Epub 2022 Jan 20 doi: 10.1007/s10143-022-01739-x. PMID: 35048261
Holste K, Sahyouni R, Teton Z, Chan AY, Englot DJ, Rolston JD
World Neurosurg 2020 Jul;139:e383-e390. Epub 2020 Apr 16 doi: 10.1016/j.wneu.2020.04.001. PMID: 32305605Free PMC Article
Deep NL, Graffeo CS, Copeland WR 3rd, Link MJ, Atkinson JL, Neff BA, Raghunathan A, Carlson ML
Laryngoscope 2017 Mar;127(3):715-719. Epub 2016 Jun 19 doi: 10.1002/lary.26126. PMID: 27320780

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