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Fatigable weakness of bulbar muscles

MedGen UID:: 868199
•Concept ID:: C4022591
•: Finding

HPO:	HP:0030192

Definition

A type of weakness of the bulbar muscles (muscles of the mouth and throat responsible for speech and 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

GTR
MeSH

CClinical test, RResearch test, OOMIM, GGeneReviews, VClinVar

CROGVFatigable weakness of bulbar muscles

Abnormality of the nervous system
- Abnormal nervous system physiology
  - Abnormal synaptic transmission
    - Abnormal peripheral nervous system synaptic transmission
      - Abnormal synaptic transmission at the neuromuscular junction
        Fatigable weakness
        Fatigable weakness of bulbar muscles
        Fatigable weakness of chewing muscles
        Fatigable weakness of speech muscles
        Fatigable weakness of swallowing muscles

Professional guidelines

PubMed

Clinical features, pathogenesis, and treatment of myasthenia gravis: a supplement to the Guidelines of the German Neurological Society.

Melzer N, Ruck T, Fuhr P, Gold R, Hohlfeld R, Marx A, Melms A, Tackenberg B, Schalke B, Schneider-Gold C, Zimprich F, Meuth SG, Wiendl H
J Neurol 2016 Aug;263(8):1473-94. Epub 2016 Feb 17 doi: 10.1007/s00415-016-8045-z. PMID: 26886206 Free PMC Article

See all (1)

Recent clinical studies

Etiology

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: 37212069 Free 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: 30808424 Free PMC Article

Clinical and genetic basis of congenital myasthenic syndromes.

Souza PV, Batistella GN, Lino VC, Pinto WB, Annes M, Oliveira AS
Arq Neuropsiquiatr 2016 Sep;74(9):750-760. doi: 10.1590/0004-282X20160106. PMID: 27706425

Clinical features, pathogenesis, and treatment of myasthenia gravis: a supplement to the Guidelines of the German Neurological Society.

Myasthenia gravis.

Juel VC, Massey JM
Orphanet J Rare Dis 2007 Nov 6;2:44. doi: 10.1186/1750-1172-2-44. PMID: 17986328 Free PMC Article

See all (15)

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: 35976295 Free 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: 30808424 Free 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

Clinical features, pathogenesis, and treatment of myasthenia gravis: a supplement to the Guidelines of the German Neurological Society.

Myasthenia Gravis.

Gwathmey KG, Burns TM
Semin Neurol 2015 Aug;35(4):327-39. Epub 2015 Oct 6 doi: 10.1055/s-0035-1558975. PMID: 26502757

See all (36)

Therapy

Targeting autoimmune mechanisms by precision medicine in Myasthenia Gravis.

Cavalcante P, Mantegazza R, Antozzi C
Front Immunol 2024;15:1404191. Epub 2024 Jun 6 doi: 10.3389/fimmu.2024.1404191. PMID: 38903526 Free 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: 30808424 Free PMC Article

Myasthenia Gravis and Its Aeromedical Implications.

Jagathesan T, O'Brien MD
Aerosp Med Hum Perform 2017 Jan 1;88(1):30-33. doi: 10.3357/AMHP.4724.2017. PMID: 28061919

Myasthenia Gravis.

Gwathmey KG, Burns TM
Semin Neurol 2015 Aug;35(4):327-39. Epub 2015 Oct 6 doi: 10.1055/s-0035-1558975. PMID: 26502757

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

See all (12)

Prognosis

Long-term Follow-up and Muscle Imaging Findings in Brachio-Cervical Inflammatory Myopathy.

Lucchini M, Bortolani S, Monforte M, Papacci M, Ricci E, Mirabella M, Tasca G
Neurol Neuroimmunol Neuroinflamm 2021 Jul;8(4) Epub 2021 May 19 doi: 10.1212/NXI.0000000000001016. PMID: 34011678 Free PMC Article

Metabolic alterations in spinal and bulbar muscular atrophy.

Francini-Pesenti F, Vitturi N, Tresso S, Sorarù G
Rev Neurol (Paris) 2020 Dec;176(10):780-787. Epub 2020 Jul 4 doi: 10.1016/j.neurol.2020.03.020. PMID: 32631678

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

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

Myasthenia gravis.

Juel VC, Massey JM
Orphanet J Rare Dis 2007 Nov 6;2:44. doi: 10.1186/1750-1172-2-44. PMID: 17986328 Free PMC Article

See all (12)

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: 38995797 Free PMC Article

Change of voltage-gated sodium channel repertoire in skeletal muscle of a MuSK myasthenia gravis mouse model.

Butenko O, Jensen SM, Fillié-Grijpma YE, Verpalen R, Verschuuren JJ, van der Maarel SM, Huijbers MG, Plomp JJ
Eur J Neurosci 2024 Jun;59(12):3292-3308. Epub 2024 Apr 22 doi: 10.1111/ejn.16347. PMID: 38650308

Immunotherapies in MuSK-positive Myasthenia Gravis; an IgG4 antibody-mediated disease.

Vakrakou AG, Karachaliou E, Chroni E, Zouvelou V, Tzanetakos D, Salakou S, Papadopoulou M, Tzartos S, Voumvourakis K, Kilidireas C, Giannopoulos S, Tsivgoulis G, Tzartos J
Front Immunol 2023;14:1212757. Epub 2023 Jul 26 doi: 10.3389/fimmu.2023.1212757. PMID: 37564637 Free 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

Development of the Myasthenia Gravis (MG) Symptoms PRO: a case study of a patient-centred outcome measure in rare disease.

Cleanthous S, Mork AC, Regnault A, Cano S, Kaminski HJ, Morel T
Orphanet J Rare Dis 2021 Oct 30;16(1):457. doi: 10.1186/s13023-021-02064-0. PMID: 34717694 Free PMC Article

See all (5)

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: 30808424 Free PMC Article

See all (1)

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Fatigable weakness of bulbar muscles

Definition

Term Hierarchy

Professional guidelines

PubMed

Recent clinical studies

Etiology

Diagnosis

Therapy

Prognosis

Clinical prediction guides

Recent systematic reviews

Supplemental Content

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Clinical resources

Practice guidelines

Consumer resources

Reviews

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