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Myotonia of the face

MedGen UID:
868292
•Concept ID:
C4022686
•
Finding
HPO: HP:0012900

Definition

Slowed relaxation of muscles in the face. [from HPO]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVMyotonia of the face

Recent clinical studies

Etiology

Myasthenia gravis patients exhibiting an eyelid myotonia-like phenomenon.
Abraham A, Gurevich T, Alcalay RN, Karni A
J Neurol Sci 2023 Oct 15;453:120783. Epub 2023 Sep 1 doi: 10.1016/j.jns.2023.120783. PMID: 37703706
Combined N-of-1 trials to investigate mexiletine in non-dystrophic myotonia using a Bayesian approach; study rationale and protocol.
Stunnenberg BC, Woertman W, Raaphorst J, Statland JM, Griggs RC, Timmermans J, Saris CG, Schouwenberg BJ, Groenewoud HM, Stegeman DF, van Engelen BG, Drost G, van der Wilt GJ
BMC Neurol 2015 Mar 25;15:43. doi: 10.1186/s12883-015-0294-4. PMID: 25880166Free PMC Article
Oral motor movements and swallowing in patients with myotonic dystrophy type 1.
Ercolin B, Sassi FC, Mangilli LD, Mendonça LI, Limongi SC, de Andrade CR
Dysphagia 2013 Sep;28(3):446-54. Epub 2013 Mar 5 doi: 10.1007/s00455-013-9458-9. PMID: 23460343
Multidisciplinary approach to the treatment of a patient with chondrodystrophic myotonia (Schwartz-Jampel vel Aberfeld syndrome): case report and literature review.
Nessler M, Puchala J, Kwiatkowski S, Kobylarz K, Mojsa I, Chrapusta-Klimeczek A
Ann Plast Surg 2011 Sep;67(3):315-9. doi: 10.1097/SAP.0b013e3181fac1ec. PMID: 21263291
Hexachlorobenzene episode in Turkey.
Gocmen A, Peters HA, Cripps DJ, Bryan GT, Morris CR
Biomed Environ Sci 1989 Mar;2(1):36-43. PMID: 2590490

Diagnosis

Myasthenia gravis patients exhibiting an eyelid myotonia-like phenomenon.
Abraham A, Gurevich T, Alcalay RN, Karni A
J Neurol Sci 2023 Oct 15;453:120783. Epub 2023 Sep 1 doi: 10.1016/j.jns.2023.120783. PMID: 37703706
Novel ORAI1 Mutation Disrupts Channel Trafficking Resulting in Combined Immunodeficiency.
Yu F, Agrebi N, Mackeh R, Abouhazima K, KhudaBakhsh K, Adeli M, Lo B, Hassan A, Machaca K
J Clin Immunol 2021 Jul;41(5):1004-1015. Epub 2021 Mar 1 doi: 10.1007/s10875-021-01004-8. PMID: 33650027Free PMC Article
Steinert syndrome and repercussions in dental medicine.
Baptista H, Lopes Cardoso I
Arch Oral Biol 2017 Mar;75:37-47. Epub 2016 Dec 23 doi: 10.1016/j.archoralbio.2016.12.008. PMID: 28040606
Myotonic Dystrophy Type 1 or Steinert's disease.
Romeo V
Adv Exp Med Biol 2012;724:239-57. doi: 10.1007/978-1-4614-0653-2_18. PMID: 22411247
Acquired blepharoptosis.
Oosterhuis HJ
Clin Neurol Neurosurg 1996 Feb;98(1):1-7. doi: 10.1016/0303-8467(95)00087-9. PMID: 8681470

Therapy

Combined N-of-1 trials to investigate mexiletine in non-dystrophic myotonia using a Bayesian approach; study rationale and protocol.
Stunnenberg BC, Woertman W, Raaphorst J, Statland JM, Griggs RC, Timmermans J, Saris CG, Schouwenberg BJ, Groenewoud HM, Stegeman DF, van Engelen BG, Drost G, van der Wilt GJ
BMC Neurol 2015 Mar 25;15:43. doi: 10.1186/s12883-015-0294-4. PMID: 25880166Free PMC Article
Results of botulinum toxin: an application to blepharospasm Schwartz-Jampel syndrome.
Vargel I, Canter HI, Topaloglu H, Erk Y
J Craniofac Surg 2006 Jul;17(4):656-60. doi: 10.1097/00001665-200607000-00008. PMID: 16877909
Hexachlorobenzene episode in Turkey.
Gocmen A, Peters HA, Cripps DJ, Bryan GT, Morris CR
Biomed Environ Sci 1989 Mar;2(1):36-43. PMID: 2590490
Chondrodystrophic myotonia (Schwartz-Jampel syndrome): report of a new case and follow-up of patients initially reported in 1969.
Edwards WC, Root AW
Am J Med Genet 1982 Sep;13(1):51-6. doi: 10.1002/ajmg.1320130109. PMID: 7137221

Prognosis

Preference-based utility weights for the Individualized Neuromuscular Quality of Life Questionnaire (INQoL), with a focus on non-dystrophic myotonia (NDM).
Lloyd A, Rand K, Pike C, Ellis C
Eur J Health Econ 2024 Nov;25(8):1461-1469. Epub 2024 Feb 28 doi: 10.1007/s10198-024-01674-2. PMID: 38416296
Steinert syndrome and repercussions in dental medicine.
Baptista H, Lopes Cardoso I
Arch Oral Biol 2017 Mar;75:37-47. Epub 2016 Dec 23 doi: 10.1016/j.archoralbio.2016.12.008. PMID: 28040606
Results of botulinum toxin: an application to blepharospasm Schwartz-Jampel syndrome.
Vargel I, Canter HI, Topaloglu H, Erk Y
J Craniofac Surg 2006 Jul;17(4):656-60. doi: 10.1097/00001665-200607000-00008. PMID: 16877909
Clinical expression of myotonic dystrophy: the predictive role of DNA diagnosis.
Can B, Schaefer FV, Malik S, Floyd M, Say B
J Okla State Med Assoc 1998 Jan-Feb;91(1):7-10. PMID: 9503753
Hexachlorobenzene episode in Turkey.
Gocmen A, Peters HA, Cripps DJ, Bryan GT, Morris CR
Biomed Environ Sci 1989 Mar;2(1):36-43. PMID: 2590490

Clinical prediction guides

Preference-based utility weights for the Individualized Neuromuscular Quality of Life Questionnaire (INQoL), with a focus on non-dystrophic myotonia (NDM).
Lloyd A, Rand K, Pike C, Ellis C
Eur J Health Econ 2024 Nov;25(8):1461-1469. Epub 2024 Feb 28 doi: 10.1007/s10198-024-01674-2. PMID: 38416296
Results of botulinum toxin: an application to blepharospasm Schwartz-Jampel syndrome.
Vargel I, Canter HI, Topaloglu H, Erk Y
J Craniofac Surg 2006 Jul;17(4):656-60. doi: 10.1097/00001665-200607000-00008. PMID: 16877909
The effect of the Schwartz-Jampel syndrome on masticatory and facial musculatures--an electromyographic analysis.
Regalo SC, Vitti M, Semprini M, de Mattos Mda G, Hallak JE, Brandão C, Serrano KV
Electromyogr Clin Neurophysiol 2005 Apr-May;45(3):183-9. PMID: 15981691
Clinical expression of myotonic dystrophy: the predictive role of DNA diagnosis.
Can B, Schaefer FV, Malik S, Floyd M, Say B
J Okla State Med Assoc 1998 Jan-Feb;91(1):7-10. PMID: 9503753
Hexachlorobenzene episode in Turkey.
Gocmen A, Peters HA, Cripps DJ, Bryan GT, Morris CR
Biomed Environ Sci 1989 Mar;2(1):36-43. PMID: 2590490

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