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Muscle-Specific Receptor Tyrosine Kinase (MuSK) Myasthenia Gravis

  • Nerve and Muscle (LH Weimer, Section Editor)
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Abstract

Autoimmune myasthenia gravis (MG) is the prototypic, antibody-mediated neuromuscular disease and is characterized by a decrease in the number of functional acetylcholine receptors (AChR) within the muscle end plate zone of the neuromuscular junction (NMJ). Although the pathophysiology of AChR-mediated myasthenia gravis has been extensively studied over the last 40 years since its original description by Patrick and Lindstrom (Science 180:871–872, 1973), less is known about the much more recently described muscle-specific kinase (MuSK) antibody-mediated MG. MuSK-MG has features clinically distinct from Ach-R MG, as well as a different pattern of response to treatment and a unique immunopathogenesis.

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References

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  1. Marstellar HB. The first American case of myasthenia gravis. Arch Neurol. 1988;45:185–7.

    Article  Google Scholar 

  2. Pascuzzi RM. The history of myasthenia gravis. Neurol Clin. 1994;12:231–42.

    CAS  PubMed  Google Scholar 

  3. Patrick J, Lindstrom J. Autoimmune response to acetylcholine receptor. Science. 1973;180:871–2.

    Article  CAS  PubMed  Google Scholar 

  4. Meriggioli MN, Sanders DB. Autoimmune myasthenia gravis: emerging clinical and biological heterogeneity. Lancet Neurol. 2009;8:475–90.

    Article  CAS  PubMed  PubMed Central  Google Scholar 

  5. Sanders DB, El-Salem K, Massey JM, et al. Clinical aspects of MuSK antibody positive seronegative MG. Neurology. 2003;60:1978–80.

    Article  CAS  PubMed  Google Scholar 

  6. Hoch W, McConville J, Sigrun H, Newsom-Davis J, Melms A, Vincent A. Auto-antibodies to the receptor tyrosine kinase MuSK in patient with myasthenia gravis without acetylcholine receptor antibodies. Nat Med. 2001;7(3):365–8.

    Article  CAS  PubMed  Google Scholar 

  7. Guptill J et al. Characterization of B cells in muscle-specific kinase antibody myasthenia gravis. Neurology: Neuroimmunol Neuroinflamm. 2015;2(2):e77. This paper explores and suggests a more definitive pathophysiology and immune mechanism for MuSK MG which may have an impact on future management.

    Google Scholar 

  8. Koneczny I, Cossins J, Vincent A. The role of muscle-specific tyrosine kinase (MuSK) and mystery of MuSK myasthenia gravis. J Anat. 2014;224:29–35.

    Article  CAS  PubMed  Google Scholar 

  9. Tsonis AI, Zisimopoulou P, Lazaridis K, et al. MuSK autoantibodies in myasthenia gravis detected by cell based assay—a multinational study. J Neuroimm. 2015;284:10–7.

    Article  CAS  Google Scholar 

  10. Yi JS et al. Characterization of CD4 and CD8 T cell response in MuSK myasthenia gravis. J Autoimmun. 2014;52:130–8. This papers explores and suggests a more definitive pathophysiology and immune mechanism for MuSK MG which may have an impact on future management.

    Article  CAS  PubMed  Google Scholar 

  11. Evoli A, Tonali PA, Padua L, et al. Clinical correlates with anti-MuSK antibodies in generalized seronegative myasthenia gravis. Brain. 2003;126:2304–11.

    Article  PubMed  Google Scholar 

  12. Deymeer F, Gungor-Tuncer O, Yilmaz V, et al. Clinical Comparison of anti-MuSK vs. anti-AChR-positive and seronegative myasthenia gravis. Neurology. 2007;68:609–11.

    Article  CAS  PubMed  Google Scholar 

  13. Evoli A, Padua L. Diagnosis and therapy of myasthenia gravis with antibodies to muscle-specific kinase. Autoimmun Rev. 2013;12:931–5. This paper reviews clinical, diagnostic and management of MuSK MG based on current evidence.

    Article  CAS  PubMed  Google Scholar 

  14. Benveniste O et al. MuSk antibody positive myasthenia gravis plasma modifies MURF-1 expression in C2C12 cultures and mouse muscle in vivo. J Neuroimmunol. 2005;170(1-2):41–8.

    Article  CAS  PubMed  Google Scholar 

  15. Sanders DB, Guptill J. Myasthenia gravis and Lambert-Eaton myasthenic syndrome. Continuum. 2014;20(5):1413–25.

    PubMed  Google Scholar 

  16. Stickler DE, Massey JM, Sanders DB. MuSK-antibody positive myasthenia gravis: clinical and electrodiagnosic patterns. Clin Neurophysiol. 2005;116:2065–8.

    Article  CAS  PubMed  Google Scholar 

  17. Vincent A et al. Seronegative generalized myasthenia gravis: clinical features, antibodies and their targets. Lancet. 2003;2:99–106.

    Article  PubMed  Google Scholar 

  18. Hatanaka Y, Hemmi S, Morgan MB, et al. Nonresponsiveness to anticholinesterase agents in patients with MuSK-antibody-positive MG. Neurology. 2005;65(9):1508–9.

    Article  CAS  PubMed  Google Scholar 

  19. Hain B, Jordan K, Deschauer M, Zierz S. Successful treatment of MuSK antibody-positive myasthenia gravis with rituximab. Muscle Nerve. 2006;33:575–80.

    Article  PubMed  Google Scholar 

  20. Evoli A, Alboini PE, Damato V, Iorio R. 3,4-Diaminopyridine may improve myasthenia gravis with MuSK antibodies. Neurology. 2016;86(11):1070–1.

    Article  PubMed  Google Scholar 

  21. Hobson-Webb L. Comment: is 3,4-diaminopyridine a new option in treating MuSK MG? Neurology. 2016;86(11):1071.

    Article  PubMed  Google Scholar 

  22. Lauriola L, Ranelletti F, Maggiano N, et al. Thymus changes in anti-MuSK-positive and negative myasthenia gravis. Neurology. 2005;64:536–8.

    Article  CAS  PubMed  Google Scholar 

  23. Guptill J, Sanders DB, Evoli A. Anti-MuSk antibody myasthenia gravis: clinical findings and response to treatment in two large cohorts. Musc and Nerv. 2011;44:36–40.

    Article  Google Scholar 

  24. Juel V, Massey J. Myasthenia gravis. Orphanet J Rare Disease. 2007;2:44.

    Article  Google Scholar 

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Correspondence to Rebecca L. Hurst.

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The authors declare that they have no competing interests.

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This article does not contain any studies with human or animal subjects performed by any of the authors.

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This article is part of the Topical Collection on Nerve and Muscle

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Hurst, R.L., Gooch, C.L. Muscle-Specific Receptor Tyrosine Kinase (MuSK) Myasthenia Gravis. Curr Neurol Neurosci Rep 16, 61 (2016). https://doi.org/10.1007/s11910-016-0668-z

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  • DOI: https://doi.org/10.1007/s11910-016-0668-z

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