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Fatigable weakness of respiratory muscles

MedGen UID:
868195
•Concept ID:
C4022587
•
Finding
HPO: HP:0030196

Definition

A type of weakness of the muscles involved in breathing (respiration) 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  
  • CROGVFatigable weakness of respiratory muscles

Professional guidelines

PubMed

Current drug treatment of myasthenia gravis.
Vanoli F, Mantegazza R
Curr Opin Neurol 2023 Oct 1;36(5):410-415. Epub 2023 Aug 30 doi: 10.1097/WCO.0000000000001196. PMID: 37678337

Recent clinical studies

Etiology

Age influences the specific force and fatigability of the external abdominal obliques but not pectoralis major muscles.
Fogarty MJ
Respir Physiol Neurobiol 2024 Feb;320:104187. Epub 2023 Nov 7 doi: 10.1016/j.resp.2023.104187. PMID: 37939865Free PMC Article
The impact of interrupting enzyme replacement therapy in late-onset Pompe disease.
Wenninger S, Gutschmidt K, Wirner C, Einvag K, Montagnese F, Schoser B
J Neurol 2021 Aug;268(8):2943-2950. Epub 2021 Feb 24 doi: 10.1007/s00415-021-10475-z. PMID: 33625582Free PMC Article
Congenital Myasthenic Syndrome From a Single Center: Phenotypic and Genotypic features.
Prior DE, Ghosh PS
J Child Neurol 2021 Jul;36(8):610-617. Epub 2021 Jan 20 doi: 10.1177/0883073820987755. PMID: 33471587
Congenital myasthenic syndromes.
Finsterer J
Orphanet J Rare Dis 2019 Feb 26;14(1):57. doi: 10.1186/s13023-019-1025-5. PMID: 30808424Free PMC Article
Impact of diaphragm muscle fiber atrophy on neuromotor control.
Mantilla CB, Sieck GC
Respir Physiol Neurobiol 2013 Nov 1;189(2):411-8. Epub 2013 Jul 2 doi: 10.1016/j.resp.2013.06.025. PMID: 23831121Free PMC Article

Diagnosis

Myasthenia gravis in clinical practice.
Estephan EP, Baima JPS, Zambon AA
Arq Neuropsiquiatr 2022 May;80(5 Suppl 1):257-265. doi: 10.1590/0004-282X-ANP-2022-S105. PMID: 35976295Free PMC Article
Congenital myasthenic syndromes.
Finsterer J
Orphanet J Rare Dis 2019 Feb 26;14(1):57. doi: 10.1186/s13023-019-1025-5. PMID: 30808424Free PMC Article
Generalized Myasthenia Gravis: Classification, Clinical Presentation, Natural History, and Epidemiology.
Hehir MK, Silvestri NJ
Neurol Clin 2018 May;36(2):253-260. doi: 10.1016/j.ncl.2018.01.002. PMID: 29655448
Pediatric Myasthenia Gravis.
Peragallo JH
Semin Pediatr Neurol 2017 May;24(2):116-121. Epub 2017 Apr 7 doi: 10.1016/j.spen.2017.04.003. PMID: 28941526
Progressive muscular dystrophies.
Chelly J, Desguerre I
Handb Clin Neurol 2013;113:1343-66. doi: 10.1016/B978-0-444-59565-2.00006-X. PMID: 23622359

Therapy

The impact of interrupting enzyme replacement therapy in late-onset Pompe disease.
Wenninger S, Gutschmidt K, Wirner C, Einvag K, Montagnese F, Schoser B
J Neurol 2021 Aug;268(8):2943-2950. Epub 2021 Feb 24 doi: 10.1007/s00415-021-10475-z. PMID: 33625582Free PMC Article
Congenital myasthenic syndromes.
Finsterer J
Orphanet J Rare Dis 2019 Feb 26;14(1):57. doi: 10.1186/s13023-019-1025-5. PMID: 30808424Free PMC Article
Can a rare form of myasthenia gravis shed additional light on disease mechanisms?
Haran M, Schattner A, Mate A, Starobin D, Haran G, Shtalrid M
Clin Neurol Neurosurg 2013 May;115(5):562-6. Epub 2012 Jul 31 doi: 10.1016/j.clineuro.2012.06.038. PMID: 22854280
Myasthenia gravis.
Silvestri NJ, Wolfe GI
Semin Neurol 2012 Jul;32(3):215-26. Epub 2012 Nov 1 doi: 10.1055/s-0032-1329200. PMID: 23117946
Juvenile myasthenia gravis: three case reports and a literature review.
Gadient P, Bolton J, Puri V
J Child Neurol 2009 May;24(5):584-90. doi: 10.1177/0883073808325651. PMID: 19406758

Prognosis

MuSK not MNGIE: Atypical MuSK-antibody myasthenia presenting as a genetic disorder.
Thebault S, Gibbs E, Bourque P, McKim D, Rakhra K, Breiner A, Frykman H, Warman-Chardon J
Neuromuscul Disord 2021 Dec;31(12):1279-1281. Epub 2021 Sep 6 doi: 10.1016/j.nmd.2021.08.014. PMID: 34690051
The clinical spectrum of the congenital myasthenic syndrome resulting from COL13A1 mutations.
Rodríguez Cruz PM, Cossins J, Estephan EP, Munell F, Selby K, Hirano M, Maroofin R, Mehrjardi MYV, Chow G, Carr A, Manzur A, Robb S, Munot P, Wei Liu W, Banka S, Fraser H, De Goede C, Zanoteli E, Conti Reed U, Sage A, Gratacos M, Macaya A, Dusl M, Senderek J, Töpf A, Hofer M, Knight R, Ramdas S, Jayawant S, Lochmüller H, Palace J, Beeson D
Brain 2019 Jun 1;142(6):1547-1560. doi: 10.1093/brain/awz107. PMID: 31081514Free PMC Article
Generalized Myasthenia Gravis: Classification, Clinical Presentation, Natural History, and Epidemiology.
Hehir MK, Silvestri NJ
Neurol Clin 2018 May;36(2):253-260. doi: 10.1016/j.ncl.2018.01.002. PMID: 29655448
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
Progressive muscular dystrophies.
Chelly J, Desguerre I
Handb Clin Neurol 2013;113:1343-66. doi: 10.1016/B978-0-444-59565-2.00006-X. PMID: 23622359

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
Age influences the specific force and fatigability of the external abdominal obliques but not pectoralis major muscles.
Fogarty MJ
Respir Physiol Neurobiol 2024 Feb;320:104187. Epub 2023 Nov 7 doi: 10.1016/j.resp.2023.104187. PMID: 37939865Free PMC Article
Peak expiratory flow and the single-breath count test as markers of respiratory function in patients with myasthenia gravis.
Aguirre F, Fernández RN, Arrejoría RM, Manin A, Cores VE, Sivori M, Villa AM
Neurologia (Engl Ed) 2023 Jul-Aug;38(6):405-411. Epub 2022 Jul 14 doi: 10.1016/j.nrleng.2020.09.006. PMID: 35842128
A mouse model for congenital myasthenic syndrome due to MuSK mutations reveals defects in structure and function of neuromuscular junctions.
Chevessier F, Girard E, Molgó J, Bartling S, Koenig J, Hantaï D, Witzemann V
Hum Mol Genet 2008 Nov 15;17(22):3577-95. Epub 2008 Aug 21 doi: 10.1093/hmg/ddn251. PMID: 18718936
Pathogenesis of respiratory insufficiency in myotonic dystrophy: the mechanical factors.
Bégin R, Bureau MA, Lupien L, Bernier JP, Lemieux B
Am Rev Respir Dis 1982 Mar;125(3):312-8. doi: 10.1164/arrd.1982.125.3.312. PMID: 6802050

Recent systematic reviews

Congenital myasthenic syndromes.
Finsterer J
Orphanet J Rare Dis 2019 Feb 26;14(1):57. doi: 10.1186/s13023-019-1025-5. PMID: 30808424Free PMC Article

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