Muscle specific kinase autoimmune myasthenia gravis in children: A case series

Neuromuscular Disorders

Volumn 23, Issue 11, 2013, Pages 874-882

  Skjei, Karen L ^a   Lennon, Vanda A ^b,c   Kuntz, Nancy L ^d  

^a University of Louisville School of Medicine   (United States)

^b MAYO CLINIC ROCHESTER   (United States)

^c MAYO GRADUATE SCHOOL   (United States)

^d NORTHWESTERN UNIVERSITY   (United States)

Author keywords

Autoimmune myasthenia gravis; Children; Electromyography; Muscle specific kinase autoantibodies

Indexed keywords

3,4 DIAMINOPYRIDINE; AUTOANTIBODY; AZATHIOPRINE; CHOLINERGIC RECEPTOR ANTIBODY; IMMUNOGLOBULIN; MUSCLE SPECIFIC KINASE ANTIBODY; MYCOPHENOLIC ACID 2 MORPHOLINOETHYL ESTER; PREDNISONE; PYRIDOSTIGMINE; RITUXIMAB; UNCLASSIFIED DRUG;

ADOLESCENT; ANTIBODY DETECTION; ARTICLE; ARTIFICIAL VENTILATION; BULBAR PARALYSIS; CASE STUDY; CHILD; CLINICAL ARTICLE; DIAPHRAGM PARALYSIS; DRUG RESPONSE; ELECTROMYOGRAPHY; FEMALE; HUMAN; IMMUNOTHERAPY; MALE; MOTOR UNIT POTENTIAL; MUSCLE ACTION POTENTIAL; MUSCLE SPECIFIC KINASE AUTOIMMUNE MYASTHENIA GRAVIS; MUSCLE WEAKNESS; MYASTHENIA GRAVIS; NEGRO; NERVE STIMULATION; PLASMAPHERESIS; POSITIVE END EXPIRATORY PRESSURE; PRESCHOOL CHILD; PRIORITY JOURNAL; SCHOOL CHILD; THYMECTOMY; UNSPECIFIED SIDE EFFECT;

AUTOIMMUNE MYASTHENIA GRAVIS; CHILDREN; ELECTROMYOGRAPHY; MUSCLE-SPECIFIC KINASE AUTOANTIBODIES;

ADOLESCENT; AUTOANTIBODIES; AUTOIMMUNE DISEASES; CHILD; CHILD, PRESCHOOL; FEMALE; HUMANS; INFANT; MALE; MYASTHENIA GRAVIS; RECEPTOR PROTEIN-TYROSINE KINASES; RECEPTORS, CHOLINERGIC; YOUNG ADULT;

EID: 84884989647     PISSN: 09608966     EISSN: 18732364     Source Type: Journal    
DOI: 10.1016/j.nmd.2013.07.010     Document Type: Article

References (47)

1. Lindstrom J.M., Seybold M.E., Lennon V.A., Whittingham S., Duane D.D. Antibody to acetylcholine receptor in myasthenia gravis. Neurol 1976, 26:1054-1059.
2. Howard F.M., Lennon V.A., Finley J., Matsumoto J., Elveback L.R. Clinical correlations of antibodies that bind, block or modulate human acetylcholine receptors in myasthenia gravis. Ann NY Acad Sci 1987, 505:526-538.
3. Andrews P.I., Massey J.M., Sanders D.B. Acetylcholine receptor antibodies in juvenile myasthenia gravis. Neurol 1993, 43:977-982.
4. Chan K.-H., Lachance D.H., Harper C.M., Lennon V.A. Frequency of seronegativity in adult-acquired generalized myasthenia gravis. Muscle Nerve 2007, 36:651-658.
5. Vincent A. Immunological disorders of neuromuscular transmission. Acta Neurol Scand 2006, 113:1-7.
6. Hoch W., McConville W.J., Helms S., Newsom-Davis J., Melms A., Vincent A. Autoantibodies to the receptor tyrosine kinase MuSK in patients with myasthenia gravis without acetylcholine receptor antibodies. Nat Med 2001, 7:365-368.
7. Evoli A., Tonali P.A., Padua L., et al. Clinical correlates with anti-MuSK antibodies in generalized seronegative myasthenia gravis. Brain 2003, 126:2304-2311.
8. Guptill J.T., Sanders D.B., Evoli A. Anti-MuSK antibody myasthenia gravis: clinical findings and response to treatment in two large cohorts. Muscle Nerve 2011, 44:36-40.
9. Valenzuela D.M., Stitt T.N., DiStefano P.S., et al. Receptor tyrosine kinase specific for the skeletal muscle lineage: expression in embryonic muscle, at the neuromuscular junction, and after injury. Neuron 1995, 15:573-584.
10. Strochlic L., Cartaud A., Cartaud J. The synaptic muscle-specific kinase (MuSK) complex: new partners, new functions. Bioessays 2005, 7:1129-1135.
11. Wolfe G.I., Oh S.J. Clinical phenotype of muscle-specific tyrosine kinase-antibody-positive myasthenia gravis. Ann NY Acad Sci 2008, 1132:71-75.
12. Shigemoto K., Kubo S., Maruyama N., et al. Induction of myasthenia by immunization against muscle-specific kinase. J Clin Invest 2006, 116(4):1016-1024.
13. Jha S., Xu K., Maruta T., et al. Myasthenia gravis induced in mice by immunization with the recombinant extracellular domain of rat muscle-specific kinase (MuSK). J Neuroimmunol 2006, 175:107-117.
14. Cole R.N., Reddel S.W., Gervasio O.L., Phillips W.D. Anti-MuSK patient antibodies disrupt the mouse neuromuscular junction. Ann Neurol 2008, 63:782-789.
15. Mori S., Kubo S., Akiyoshi T., et al. Antibodies against muscle-specific kinase impair both presynaptic and postsynaptic functions in a murine model of myasthenia gravis. Am J Pathol 2012, 180(2):798-810.
16. Viegas S., Jacoson L., Water P., et al. Passive and active immunization models of MuSK-Ab positive myasthenia: electrophysiological evidence for pre and postsynaptic defects. Exp Neurol 2012, 10.1016/j.expneurol.2012.01.025.
17. Pasnoor M., Wolfe G.I., Nations S., et al. Clinical findings in MuSK-antibody positive myasthenia gravis: a US experience. Muscle Nerve 2010, 41:371-374.
18. Lavrnic D., Losen M., Vujic A., et al. The features of myasthenia gravis with autoantibodies to MuSK. J Neurol Neurosurg Psychiat 2005, 76:1099-1102.
19. Afifi A.K., Bell W.E. Tests for juvenile myasthenia gravis: comparative diagnostic yield and prediction of outcome. J Child Neurol 1993, 8:403-411.
20. Saulat B., Maertens P., Hamilton W.J., Bassam B.A. Anti-MuSK antibody after thymectomy in a previously seropositive myasthenic child. Neurol 2007, 69:803-804.
21. Selcen D., Fukuda T., Shen X.-M., Engel A. Are MuSK antibodies the primary cause of myasthenic symptoms?. Neurol 2004, 62:1945-1950.
22. Tsiamalos P., Kordas G., Kokla A., Poulas K., Tzartos S.J. Epidemiological and immunological profile of muscle-specific kinase myasthenia gravis in Greece. Eur J Neurol 2009, 16:925-930.
23. Kostera-Pruszczyk A., Kaminska A., Dutkiewicz M., et al. MuSK-positive myasthenia gravis is rare in the Polish population. Eur J Neurol 2008, 15:720-724.
24. Behin A., Mayar M., Kassis-Makhoul B., et al. Severe neonatal myasthenia due to maternal anti-MuSK antibodies. Neuromus Dis 2008, 18:443-446.
25. Niks E.H., Verrips A., Semmekrot B.A., et al. A transient neonatal myasthenic syndrome with anti-MuSK antibodies. Neurol 2008, 70:1215-1216.
26. O'Carroll P., Bertorini T.E., Jacob G., et al. Transient neonatal myasthenia gravis in a baby born to a mother with new-onset anti-MuSK-mediated myasthenia gravis. J Clin Neuromus Dis 2009, 11:69-71.
27. Chevessier F., Faraut B., Ravel-Chapuis A., et al. MuSK, a new target for mutations causing congenital myasthenic syndrome. Human Mol Genet 2004, 13:3229-3240.
28. Mihaylova V., Salih M.A.M., Mukhtar M.M., et al. Refinement of the clinical phenotype in MuSK-related congenital myasthenic syndromes. Neurol 2009, 73:1926-1928.
29. Masseli R.A., Arredondo J., Cagney O., et al. Mutations in MUSK causing congenital myasthenic syndrome impair MuSK-DOK7 interaction. Human Mol Genet 2010, 19:2370-2379.
30. Andrews P.I., Massey J.M., Howard J.F., Sanders D.B. Race, sex and puberty influence onset, severity and outcome in juvenile myasthenia gravis. Neurol 1994, 44:1208-1214.
31. Evoli A., Batocchi A.P., Bartoccioni E., Lino M.M., Minisci C., Tonali P. Juvenile myasthenia gravis with prepubertal onset. Brain 1998, 8:561-567.
32. Oh S.J., Morgan M.B., Lu L., et al. Racial differences in myasthenia gravis in Alabama. Muscle Nerve 2009, 39:328-332.
33. Burns T, Wolfe G, Nations S, et al. Variable MuSK antibody positive rates among seronegative MG in the United States. In: AAN 2008 annual meeting; 2008: Chicago, IL.
34. Young A, Claussen G, Morgan M, et al. Clinical and laboratory differences among three types of generalized myasthenia Gravis. In: AAN 2008 annual meeting; 2008: Chicago, IL.
35. Rodriguez M., Gomez M.R., Howard F.M., Taylor W.F. Myasthenia Gravis in children: long-term followup. Ann Neurol 1983, 13:564-570.
36. Chiang L.M., Darras B.T., Kang P.B. Juvenile myasthenia gravis. Muscle Nerve 2009, 39:423-431.
37. Caress J.B., Hunt C.H., Batish S.D. Anti-MuSK myasthenia gravis presenting with purely ocular findings. Arch Neurol 2005, 62:1002-1003.
38. Oh S.J., Hatanaka Y., Hemmi S., et al. Repetitive nerve stimulation of facial muscles in MuSK antibody-positive myasthenia gravis. Muscle Nerve 2006, 33:500-504.
39. Pitt M.C. Nerve conduction studies and needle EMG in very small children. Eur J Paed Neurol 2012, 16:285-291.
40. Kostera-Pruszczyk A., Kwiecinski H. Juvenile seropositive myasthenia gravis with anti-MuSK antibody after thymectomy. J Neurol Neurosurg Psychiat 2009, 256:1780-1781.
41. Sanders D.B., Juel V.C. MuSK-antibody positive myasthenia gravis: questions from the clinic. J Neuroimmunol 2008, 201:85-89.
42. Ohta K., Shigemoto K., Kubo S., et al. MuSK antibodies in AChR Ab-seropositive MG vs. AChR Ab-seronegative MG. Neurol 2004, 62:2132-2133.
43. Leite M.L., Strobel P., Jones M., et al. Fewer thymic changes in MuSK antibody-positive than in MuSK antibody-negative MG. Ann Neurol 2005, 57:444-448.
44. Briscoe NK, Mezei MM, Wilson J, et al. Lymphofollicular hyperplasia is rare in both MuSK positive and in seronegative myasthenia gravis. In: AAN 2008 Annual Meeting. 2008: Chicago, IL.
45. Meriggioli M.N., Sanders D.B. Autoimmune myasthenia gravis: emerging clinical and biological heterogeneity. Lancet Neurol 2009, 8:475-490.
46. Hatanaka Y., Hemmi S., Morgan M.B., et al. Nonresponsiveness to anticholinesterase agents in patients with MuSK-antibody-positive MG. Neurol 2005, 65:1508-1509.
47. Diaz-Manera J., Martinez-Hernandez E., Querol L., et al. Long-lasting treatment effect of rituximab in MuSK myasthenia. Neurol 2012, 78:189-193.