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Myotonia of the jaw

MedGen UID:
868291
•Concept ID:
C4022685
•
Finding
HPO: HP:0012901

Definition

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

Term Hierarchy

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

Professional guidelines

PubMed

Treatment in myotonia and periodic paralysis.
Meola G, Sansone V
Rev Neurol (Paris) 2004 May;160(5 Pt 2):S55-69. doi: 10.1016/s0035-3787(04)71007-3. PMID: 15269662

Recent clinical studies

Etiology

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

Diagnosis

Excessive daytime sleepiness in a patient with coexisting myotonic dystrophy type 1, myasthenia gravis and Graves' disease.
Kapica-Topczewska K, Pogorzelski R, Tarasiuk J, Drozdowski W, Lewczuk P, Kułakowska A
Neurol Neurochir Pol 2017 Mar-Apr;51(2):190-193. Epub 2017 Feb 3 doi: 10.1016/j.pjnns.2017.01.007. PMID: 28209438
Dental findings and muscular-skeletal features in Schwartz-Jampel syndrome: case report of two affected siblings.
Díaz-Serrano KV, Brandão CB, Brandão RB, Watanabe PC, Regalo SC
Spec Care Dentist 2006 Sep-Oct;26(5):225-9. doi: 10.1111/j.1754-4505.2006.tb01443.x. PMID: 17249445
Paramyotonia congenita: abnormal short exercise test, and improvement after mexiletine therapy.
Jackson CE, Barohn RJ, Ptacek LJ
Muscle Nerve 1994 Jul;17(7):763-8. doi: 10.1002/mus.880170710. PMID: 8008003
Myotonic dystrophy: limited electromyographic abnormalities in 2 definite cases.
Sun SF, Streib EW
Clin Genet 1983 Feb;23(2):111-4. PMID: 6839522
Myotonic dystrophy initially manifested by speech disability.
Weinberg B, Bosma JF, Shanks JC, DeMyer W
J Speech Hear Disord 1968 Feb;33(1):51-9. doi: 10.1044/jshd.3301.51. PMID: 5643961

Therapy

A novel mutation in CLCN1 associated with feline myotonia congenita.
Gandolfi B, Daniel RJ, O'Brien DP, Guo LT, Youngs MD, Leach SB, Jones BR, Shelton GD, Lyons LA
PLoS One 2014;9(10):e109926. Epub 2014 Oct 30 doi: 10.1371/journal.pone.0109926. PMID: 25356766Free PMC Article
Paramyotonia congenita: abnormal short exercise test, and improvement after mexiletine therapy.
Jackson CE, Barohn RJ, Ptacek LJ
Muscle Nerve 1994 Jul;17(7):763-8. doi: 10.1002/mus.880170710. PMID: 8008003

Prognosis

A novel mutation in CLCN1 associated with feline myotonia congenita.
Gandolfi B, Daniel RJ, O'Brien DP, Guo LT, Youngs MD, Leach SB, Jones BR, Shelton GD, Lyons LA
PLoS One 2014;9(10):e109926. Epub 2014 Oct 30 doi: 10.1371/journal.pone.0109926. PMID: 25356766Free PMC Article

Clinical prediction guides

A novel mutation in CLCN1 associated with feline myotonia congenita.
Gandolfi B, Daniel RJ, O'Brien DP, Guo LT, Youngs MD, Leach SB, Jones BR, Shelton GD, Lyons LA
PLoS One 2014;9(10):e109926. Epub 2014 Oct 30 doi: 10.1371/journal.pone.0109926. PMID: 25356766Free PMC Article

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