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Fatigable weakness of swallowing muscles

MedGen UID:
868196
•Concept ID:
C4022588
•
Finding
HPO: HP:0030195

Definition

A type of weakness of the muscles involved in swallowing that occurs after a muscle group is used and lessens if the muscle group has some rest. That is, there is diminution of strength with repetitive muscle actions. [from HPO]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • Fatigable weakness of swallowing muscles

Professional guidelines

PubMed

Dental management of patients with myasthenia gravis: a literature review.
Yarom N, Barnea E, Nissan J, Gorsky M
Oral Surg Oral Med Oral Pathol Oral Radiol Endod 2005 Aug;100(2):158-63. doi: 10.1016/j.tripleo.2005.01.003. PMID: 16037773

Recent clinical studies

Etiology

Characterization of Clinical Phenotypes in Congenital Myasthenic Syndrome Associated with the c.1327delG Frameshift Mutation in CHRNE Encoding the Acetylcholine Receptor Epsilon Subunit.
Kastreva K, Chamova T, Blagoeva S, Bichev S, Mihaylova V, Meyer S, Thompson R, Cherninkova S, Guergueltcheva V, Lochmuller H, Tournev I
J Neuromuscul Dis 2024;11(5):1011-1020. doi: 10.3233/JND-230235. PMID: 38995797Free PMC Article
Sarcopenia of the longitudinal tongue muscles in rats.
Sieck GC, Hernandez-Vizcarrondo GA, Brown AD, Fogarty MJ
Respir Physiol Neurobiol 2024 Jan;319:104180. Epub 2023 Oct 18 doi: 10.1016/j.resp.2023.104180. PMID: 37863156Free PMC Article
Development of an International SMA Bulbar Assessment for Inter-professional Administration.
Dunaway Young S, McGrattan K, Johnson E, van der Heul M, Duong T, Bakke M, Werlauff U, Pasternak A, Cattaneo C, Hoffman K, Fanelli L, Breaks A, Allison K, Baranello G, Finkel R, Coratti G, Lofra RM
J Neuromuscul Dis 2023;10(4):639-652. doi: 10.3233/JND-221672. PMID: 37212069Free PMC Article
Congenital stridor with feeding difficulty as a presenting symptom of Dok7 congenital myasthenic syndrome.
Jephson CG, Mills NA, Pitt MC, Beeson D, Aloysius A, Muntoni F, Robb SA, Bailey CM
Int J Pediatr Otorhinolaryngol 2010 Sep;74(9):991-4. Epub 2010 Jun 15 doi: 10.1016/j.ijporl.2010.05.022. PMID: 20554332
A prospective assessment of the characteristics of dysphagia in myasthenia gravis.
Colton-Hudson A, Koopman WJ, Moosa T, Smith D, Bach D, Nicolle M
Dysphagia 2002 Spring;17(2):147-51. doi: 10.1007/s00455-001-0114-4. PMID: 11956840

Diagnosis

Effects of weakness of orofacial muscles on swallowing and communication in FSHD.
Mul K, Berggren KN, Sills MY, McCalley A, van Engelen BGM, Johnson NE, Statland JM
Neurology 2019 Feb 26;92(9):e957-e963. Epub 2019 Jan 25 doi: 10.1212/WNL.0000000000007013. PMID: 30804066Free PMC Article
Diagnostic and clinical classification of autoimmune myasthenia gravis.
Berrih-Aknin S, Frenkian-Cuvelier M, Eymard B
J Autoimmun 2014 Feb-Mar;48-49:143-8. Epub 2014 Feb 13 doi: 10.1016/j.jaut.2014.01.003. PMID: 24530233
Childhood-onset myasthenia gravis with thymoma.
Nikolic DM, Nikolic AV, Lavrnic DV, Medjo BP, Ivanovski PI
Pediatr Neurol 2012 May;46(5):329-31. doi: 10.1016/j.pediatrneurol.2012.02.025. PMID: 22520357
Dental management of patients with myasthenia gravis: a literature review.
Yarom N, Barnea E, Nissan J, Gorsky M
Oral Surg Oral Med Oral Pathol Oral Radiol Endod 2005 Aug;100(2):158-63. doi: 10.1016/j.tripleo.2005.01.003. PMID: 16037773
Assessment of esophageal function in patients with myasthenia gravis.
Linke R, Witt TN, Tatsch K
J Neurol 2003 May;250(5):601-6. doi: 10.1007/s00415-003-1049-5. PMID: 12736742

Therapy

Stridor Due to Cranial Nerve X Palsy Progressing to Polyneuropathy in a Teenager With COVID-19.
Dean A, Said A, Marri K, Chelius D
Pediatrics 2021 Dec 1;148(6) doi: 10.1542/peds.2021-051534. PMID: 34851417
Immunotherapy-related skeletal muscle weakness in cancer patients: a case series.
Ng AH, Molinares DM, Ngo-Huang AT, Bruera E
Ann Palliat Med 2021 Feb;10(2):2359-2365. Epub 2020 Jun 21 doi: 10.21037/apm-20-454. PMID: 32575996
Following leads: connecting dysphagia to mixed connective tissue disease.
Gameiro RS, Reis AIA, Grilo AC, Noronha C
BMJ Case Rep 2018 Mar 5;2018 doi: 10.1136/bcr-2017-223699. PMID: 29507032Free PMC Article
Dental management of patients with myasthenia gravis: a literature review.
Yarom N, Barnea E, Nissan J, Gorsky M
Oral Surg Oral Med Oral Pathol Oral Radiol Endod 2005 Aug;100(2):158-63. doi: 10.1016/j.tripleo.2005.01.003. PMID: 16037773
The otolaryngologic presentation of myasthenia gravis.
Carpenter RJ 3rd, McDonald TJ, Howard FM Jr
Laryngoscope 1979 Jun;89(6 Pt 1):922-8. doi: 10.1288/00005537-197906000-00008. PMID: 449537

Prognosis

Partial loss of desmin expression due to a leaky splice site variant in the human DES gene is associated with neuromuscular transmission defects.
Polavarapu K, O'Neil D, Thompson R, Spendiff S, Nandeesh B, Vengalil S, Huddar A, Baskar D, Arunachal G, Kotambail A, Bhatia S, Tumulu SK, Matalonga L, Töpf A, Laurie S, Zeldin J, Nashi S, Unnikrishnan G, Nalini A, Lochmüller H
Neuromuscul Disord 2024 Jun;39:10-18. Epub 2024 Mar 22 doi: 10.1016/j.nmd.2024.03.011. PMID: 38669730
Following leads: connecting dysphagia to mixed connective tissue disease.
Gameiro RS, Reis AIA, Grilo AC, Noronha C
BMJ Case Rep 2018 Mar 5;2018 doi: 10.1136/bcr-2017-223699. PMID: 29507032Free PMC Article
Diagnostic and clinical classification of autoimmune myasthenia gravis.
Berrih-Aknin S, Frenkian-Cuvelier M, Eymard B
J Autoimmun 2014 Feb-Mar;48-49:143-8. Epub 2014 Feb 13 doi: 10.1016/j.jaut.2014.01.003. PMID: 24530233
Childhood-onset myasthenia gravis with thymoma.
Nikolic DM, Nikolic AV, Lavrnic DV, Medjo BP, Ivanovski PI
Pediatr Neurol 2012 May;46(5):329-31. doi: 10.1016/j.pediatrneurol.2012.02.025. PMID: 22520357

Clinical prediction guides

Characterization of Clinical Phenotypes in Congenital Myasthenic Syndrome Associated with the c.1327delG Frameshift Mutation in CHRNE Encoding the Acetylcholine Receptor Epsilon Subunit.
Kastreva K, Chamova T, Blagoeva S, Bichev S, Mihaylova V, Meyer S, Thompson R, Cherninkova S, Guergueltcheva V, Lochmuller H, Tournev I
J Neuromuscul Dis 2024;11(5):1011-1020. doi: 10.3233/JND-230235. PMID: 38995797Free PMC Article
Partial loss of desmin expression due to a leaky splice site variant in the human DES gene is associated with neuromuscular transmission defects.
Polavarapu K, O'Neil D, Thompson R, Spendiff S, Nandeesh B, Vengalil S, Huddar A, Baskar D, Arunachal G, Kotambail A, Bhatia S, Tumulu SK, Matalonga L, Töpf A, Laurie S, Zeldin J, Nashi S, Unnikrishnan G, Nalini A, Lochmüller H
Neuromuscul Disord 2024 Jun;39:10-18. Epub 2024 Mar 22 doi: 10.1016/j.nmd.2024.03.011. PMID: 38669730
Sarcopenia of the longitudinal tongue muscles in rats.
Sieck GC, Hernandez-Vizcarrondo GA, Brown AD, Fogarty MJ
Respir Physiol Neurobiol 2024 Jan;319:104180. Epub 2023 Oct 18 doi: 10.1016/j.resp.2023.104180. PMID: 37863156Free PMC Article
Overground exoskeletons may boost neuroplasticity in myotonic dystrophy type 1 rehabilitation: A case report.
Portaro S, Naro A, Leo A, Cimino V, Balletta T, Buda A, Accorinti M, Calabrò RS
Medicine (Baltimore) 2019 Nov;98(46):e17582. doi: 10.1097/MD.0000000000017582. PMID: 31725606Free PMC Article

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