NEUROMUSCULAR JUNCTION DISEASES
Demet Bölükbaşı
Ankara Bilkent City Hospital, Department of Intensive Care, Ankara, Türkiye
Bölükbaşı D. Neuromuscular Junction Diseases. In: Turan S, editor. Hard Decisions in Intensive Care Unit. 1st ed. Ankara: Türkiye Klinikleri; 2025. p.189-197.
ABSTRACT
Most neuromuscular junction (NMJ) diseases are acquired. Common NMJ diseases include myasthenia gravis (MG), Lambert-Eaten myasthenic syndrome (LEMS), and botulism. Among these, the most common disease is MG, which has an autoimmune basis and is mediated by antibodies targeted against postsynaptic receptors. MG is clinically divided into ocular and generalized MG types. In LEMS, presynaptic calcium channels are affected. Patients with LEMS should be screened for malignancy (mostly small-cell lung cancer) because it may accompany malignancy. However, LEMS may also manifest as an autoimmune disease. Botulism occurs when neurotoxins produced by Clostridium botulinum inhibit presynaptic receptors. Botulinum toxins are taken into the body through food, wounds, or medical toxin treatment. In NMJ diseases, respiratory failure may develop due to increased muscle weakness and atelectasis because of impaired secretion/excretion. These patients may need invasive mechanical ventilation, and postoperative patients and pregnant women may need close intensive care follow-up.
Keywords: Neuromuscular junction; Myasthenia gravis; Lambert-eaton myasthenic syndrome; Botulism; Critical care
Kaynak Göster
Referanslar
- Grob D, Brunner N, Namba T, Pagala M. Lifetime course of myasthenia gravis. Muscle & Nerve. 2008;37(2):141-149. [Crossref] [PubMed]
- Dresser L, Wlodarski R, Rezania K, Soliven B. Myasthenia Gravis: Epidemiology, Pathophysiology and Clinical Manifestations. J Clin Med. 2021;10(11):2235 [Crossref] [PubMed] [PMC]
- Mishra AK, Varma A. Myasthenia Gravis: A Systematic Review. Cureus. 2023;15(12):e50017. [Crossref]
- Martyn JA, Fagerlund MJ, Eriksson LI. Basic principles of neuromuscular transmission. Anaesthesia. 2009;64 Sup:l1:1-9. [Crossref] [PubMed]
- Patton BL. Basal lamina and the organization of neuromuscular synapses. Journal of Neurocytology. 2003;32(5-8):883-903. [Crossref] [PubMed]
- Vakrakou AG, Karachaliou E, Chroni E, Zouvelou V, Tzanetakos D, Salakou S, et al. Immunotherapies in MuSK-positive Myasthenia Gravis; an IgG4 antibody-mediated disease. Front Immunol. 2023;14:1212757. [Crossref] [PubMed] [PMC]
- Tiftikcioglu BI, Uludag IF, Zorlu Y, Pirim İ, Sener U, Tokucoglu F, et al. Human Leucocyte Antigen B50 Is Associated with Conversion to Generalized Myasthenia Gravis in Patients with Pure Ocular Onset. Med Princ Pract. 2017;26(1):71-77. [Crossref] [PubMed] [PMC]
- Cataneo AJM, Felisberto G Jr, Cataneo DC. Thymectomy in nonthymomatous myasthenia gravis - systematic review and meta-analysis. Orphanet J Rare Dis. 2018;13(1):99. [Crossref] [PubMed] [PMC]
- Pasnoor M, Wolfe GI, Barohn RJ. Myasthenia gravis. Handb Clin Neurol. 2024;203:185-203. [Crossref] [PubMed]
- Gayathri D, Nandasiri S, Pathirana G. A Case Report of MuSK Antibody-Positive Myasthenia Gravis. Cureus. 2024 Jun 6;16(6):e61820. [Crossref]
- Fichtner ML, Jiang R, Bourke A, Nowak RJ, O'Connor KC. Autoimmune Pathology in Myasthenia Gravis Disease Subtypes Is Governed by Divergent Mechanisms of Immunopathology. Front Immunol. 2020;11:776. [Crossref] [PubMed] [PMC]
- Bekircan-Kurt CE, Kurne A, Erdem Ozdamar S, Karabudak R, Kansu T, Tan E. Myasthenia gravis; single entity, variable clinical features: Ten years of clinical experience in a tertiary care center ten years clinical experience of a tertiary care center. J Neurol Sci-Turk. 2013;30:135-43. [Link]
- Karim MR, Zhang HY, Yuan J, Sun Q, Wang YF. Regulatory B Cells in Seropositive Myasthenia Gravis versus Healthy Controls. Front Neurol. 2017;8:43. [Crossref]
- Vincent A. Unravelling the pathogenesis of myasthenia gravis. Nat Rev Immunol. 2002;2(10):797-804. [Crossref] [PubMed]
- Cetin H, Vincent A. Pathogenic Mechanisms and Clinical Correlations in Autoimmune Myasthenic Syndromes. Semin Neurol. 2018 Jun;38(3):344-354. [Crossref] [PubMed]
- Evoli A, Iorio R. Controversies in Ocular Myasthenia Gravis. Front Neurol. 2020;11:605902. [Crossref] [PubMed] [PMC]
- Elsheikh B, Arnold WD, Gharibshahi S, Reynolds J, Freimer M, Kissel JT. Correlation of single-breath count test and neck flexor muscle strength with spirometry in myasthenia gravis. Muscle Nerve. 2016;53:134-6. [Crossref] [PubMed] [PMC]
- Pasnoor M, Dimachkie MM, Farmakidis C, Barohn RJ. Diagnosis of myasthenia gravis. Neurol Clin. 2018;36(2):261-74. [Crossref] [PubMed]
- Latting MW, Huggins AB, Marx DP, Giacometti JN. Clinical Evaluation of Blepharoptosis: Distinguishing Age-Related Ptosis from Masquerade Conditions. Semin Plast Surg.2017;31(1):5-16. [Crossref] [PubMed] [PMC]
- Karatas H, Nurlu G, Kansu T. Is there still a role for edrophonium in diagnosing ocular myasthenia. Eur J Neurol. 2007 Mar;14(3):e4-5. [Crossref] [PubMed]
- Liang T, Boulos MI, Murray BJ, Krishnan S, Katzberg H, Umapathy K. Detection of myasthenia gravis using electrooculography signals. Annu Int Conf IEEE Eng Med Biol Soc. 2016;2016:896-899. [Crossref]
- Uluç K. Miyastenia graviste tedavi prensipleri ve Yeni Gelişmeler. Tanrıdağ T, editör. Nöromusküler Kavşak Hastalıkları. 1. Baskı. Ankara: Türkiye Klinikleri; 2019. p.39-43. [Link]
- Tandan R, Hehir MK 2nd, Waheed W, Howard DB. Rituximab treatment of myasthenia gravis: A systematic review. Muscle Nerve. 2017;56(2):185-196. [Crossref] [PubMed]
- Mantegazza R, Antozzi C. When myasthenia gravis is deemed refractory: clinical signposts and treatment strategies. Ther Adv Neurol Disord. 2018;11:1756285617749134. [Crossref] [PubMed] [PMC]
- Aljaafari D, Ishaque N. Thymectomy in Myasthenia Gravis: A Narrative Review. Saudi J Med Med Sci. 2022 May-Aug;10(2):97-104. [Crossref] [PubMed] [PMC]
- Nelke C, Stascheit F, Eckert C, Pawlitzki M, Schroeter CB, Huntemann N, et al. Independent risk factors for myasthenic crisis and disease exacerbation in a retrospective cohort of myasthenia gravis patients. J Neuroinflammation. 2022;19(1):89. [Crossref] [PubMed] [PMC]
- Galassi G, Ariatti A, Marchioni A. Non-invasive mechanical ventilation in myasthenic crisis outside intensive care unit setting: a safe step? Response. Neuromuscul Disord. 2022;32(6):540-541. [Crossref] [PubMed] [PMC]
- Wendell LC, Levine JM. Myasthenic crisis. Neurohospitalist. 2011;1:16-22. [Crossref] [PubMed] [PMC]
- Stieglbauer K, Pichler R, Topakian R. 10-year outcomes after rituximab for myasthenia gravis: efficacy, safety, costs of inhospital care, and impact on childbearing potential. J Neurol Sci. 2017;375:241-4. [Crossref] [PubMed]
- Benlghazi A, Messaoudi H, Belouad M, Bouhtouri Y, Benali S, Rachid AB, et al. Myasthenia gravis and pregnancy: Lessons learned from a complex a case report. SAGE Open Med Case Rep. 2024;12:2050313X241253998. [Crossref] [PubMed] [PMC]
- Lipka AF, Verschuuren JJGM. Lambert-Eaton myasthenic syndrome. Handb Clin Neurol. 2024;200:307-325. [Crossref] [PubMed]
- Jayarangaiah A, Lui F, Theetha Kariyanna P. Lambert-Eaton Myasthenic Syndrome. [Updated 2023 Oct 23]. In: StatPearls [Internet]. Treasure Island (FL): StatPearls Publishing; 2025 Jan-. [Link]
- Keogh M, Sedehizadeh S, Maddison P. Treatment for Lambert-Eaton myasthenic syndrome. Cochrane Database Syst Rev. 2011;2011(2):CD003279. [Crossref] [PubMed] [PMC]
- Pascuzzi RM, Bodkin CL. Myasthenia Gravis and Lambert-Eaton Myasthenic Syndrome: New Developments in Diagnosis and Treatment. Neuropsychiatr Dis Treat. 2022;18:3001-3022. [Crossref] [PubMed] [PMC]
- Rao AK, Sobel J, Chatham-Stephens K, Luquez C. Clinical Guidelines for Diagnosis and Treatment of Botulism, 2021. MMWR Recomm Rep. 2021;70(2):1-30. [Crossref] [PubMed] [PMC]
- Szuch E, Caress JB, Paudyal B, Brashear A, Cartwright MS, Strowd RE 3rd. Head drop after botox: Electrodiagnostic evaluation of iatrogenic botulinum toxicity. Clin Neurol Neurosurg. 2017;156:1-3. [Crossref] [PubMed] [PMC]
- Ni SA, Brady MF. Botulism Antitoxin. In: StatPearls. Treasure Island (FL): StatPearls Publishing; September 4, 2023. [PubMed]