Neurophysiological Assessment of Abnormalities of the Neuromuscular Junction in Children
Abstract
:1. Introduction
2. Neurophysiological Techniques
2.1. Repetitive Nerve Stimulation (RNS)
2.2. Single-Fibre EMG (SFEMG)
The Problems with Nomenclature in Single-Fibre EMG
3. The Use of SPACE in Children
4. Normative Data
5. Results of Examination with SPACE
6. Conclusions
Conflicts of Interest
References
- Rosow, L.K.; Strober, J.B. Infant botulism: Review and clinical update. Pediatr. Neurol. 2015, 52, 487–492. [Google Scholar] [CrossRef] [PubMed]
- Koepke, R.; Sobel, J.; Arnon, S.S. Global occurrence of infant botulism, 1976–2006. Pediatrics 2008, 122, e73–e82. [Google Scholar] [CrossRef] [PubMed]
- Gooch, J.L.; Moore, M.H.; Ryser, D.K. Prolonged paralysis after neuromuscular junction blockade: Case reports and electrodiagnostic findings. Arch. Phys. Med. Rehabil. 1993, 74, 1007–1011. [Google Scholar] [PubMed]
- Chaouch, A.; Beeson, D.; Hantai, D.; Lochmuller, H. 186th ENMC International Workshop: Congenital myasthenic syndromes 24–26 June 2011, Naarden, The Netherlands. Neuromuscul. Disord. 2012, 22, 566–576. [Google Scholar] [CrossRef] [PubMed]
- Jephson, C.G.; Mills, N.A.; Pitt, M.C.; Beeson, D.; Aloysius, A.; Muntoni, F.; Robb, S.A.; Bailey, C.M. Congenital stridor with feeding difficulty as a presenting symptom of Dok7 congenital myasthenic syndrome. Int. J. Pediatr. Otorhinolaryngol. 2010, 74, 991–994. [Google Scholar] [CrossRef] [PubMed]
- Kinali, M.; Beeson, D.; Pitt, M.C.; Jungbluth, H.; Simonds, A.K.; Aloysius, A.; Cockerill, H.; Davis, T.; Palace, J.; Manzur, A.Y.; et al. Congenital myasthenic syndromes in childhood: Diagnostic and management challenges. J. Neuroimmunol. 2008, 201, 6–12. [Google Scholar] [CrossRef] [PubMed]
- Webster, R.; Liu, W.W.; Chaouch, A.; Lochmuller, H.; Beeson, D. Fast-channel congenital myasthenic syndrome with a novel acetylcholine receptor mutation at the alpha-epsilon subunit interface. Neuromuscul. Disord. 2014, 24, 143–147. [Google Scholar] [CrossRef] [PubMed]
- Palace, J.; Lashley, D.; Bailey, S.; Jayawant, S.; Carr, A.; McConville, J.; Robb, S.; Beeson, D. Clinical features in a series of fast channel congenital myasthenia syndrome. Neuromuscul. Disord. 2012, 22, 112–117. [Google Scholar] [CrossRef] [PubMed]
- Pitt, M. Neurophysiological strategies for the diagnosis of disorders of the neuromuscular junction in children. Dev. Med. Child Neurol. 2008, 50, 328–333. [Google Scholar] [CrossRef] [PubMed]
- Stalberg, E.V.; Sanders, D.B. Jitter recordings with concentric needle electrodes. Muscle Nerve 2009, 40, 331–339. [Google Scholar] [CrossRef] [PubMed]
- Pitt, M.C. Use of stimulated EMG in the analysis of the neuromuscular junction in children. Muscle Nerve 2017. [Google Scholar] [CrossRef] [PubMed]
- Pitt, M.C.; McHugh, J.C.; Deeb, J.; Smith, R.A. Assessing neuromuscular junction stability from stimulated EMG in children. Clin. Neurophysiol. 2017, 128, 290–296. [Google Scholar] [CrossRef] [PubMed]
- Belaya, K.; Rodriguez Cruz, P.M.; Liu, W.W.; Maxwell, S.; McGowan, S.; Farrugia, M.E.; Petty, R.; Walls, T.J.; Sedghi, M.; Basiri, K.; et al. Mutations in GMPPB cause congenital myasthenic syndrome and bridge myasthenic disorders with dystroglycanopathies. Brain 2015, 138 Pt 9, 2493–2504. [Google Scholar] [CrossRef] [PubMed]
- Jabre, J.F.; Pitt, M.C.; Deeb, J.; Chui, K.K. E-norms: A method to extrapolate reference values from a laboratory population. J. Clin. Neurophysiol. 2015, 32, 265–270. [Google Scholar] [CrossRef] [PubMed]
- Pitt, M.C.; Jabre, J.F. ; Determining jitter values in the very young by use of the e-norms methodology. Muscle Nerve 2017, 55, 51–54. [Google Scholar] [CrossRef] [PubMed]
- Fawcett, P.R.; Mastaglia, F.L.; Mechler, F. Electrophysiological findings including single fibre EMG in a family with mitochondrial myopathy. J. Neurol. Sci. 1982, 53, 397–410. [Google Scholar] [CrossRef]
- Forrest, K.M.; Al-Sarraj, S.; Sewry, C.; Buk, S.; Tan, S.V.; Pitt, M.; Durward, A.; McDougall, M.; Irving, M.; Hanna, M.G.; et al. Infantile onset myofibrillar myopathy due to recessive CRYAB mutations. Neuromuscul. Disord. 2011, 21, 37–40. [Google Scholar] [CrossRef] [PubMed]
- Illingworth, M.A.; Main, M.; Pitt, M.; Feng, L.; Sewry, C.A.; Gunny, R.; Vorstman, E.; Beeson, D.; Manzur, A.; Muntoni, F.; et al. RYR1-related congenital myopathy with fatigable weakness, responding to pyridostigimine. Neuromuscul. Disord. 2014, 24, 707–712. [Google Scholar] [CrossRef] [PubMed]
- Munot, P.; Lashley, D.; Jungbluth, H.; Feng, L.; Pitt, M.; Robb, S.A.; Palace, J.; Jayawant, S.; Kennet, R.; Beeson, D.; et al. Congenital fibre type disproportion associated with mutations in the tropomyosin 3 (TPM3) gene mimicking congenital myasthenia. Neuromuscul. Disord. 2010, 20, 796–800. [Google Scholar] [CrossRef] [PubMed]
- Robb, S.A.; Sewry, C.A.; Dowling, J.J.; Feng, L.; Cullup, T.; Lillis, S.; Abbs, S.; Lees, M.M.; Laporte, J.; Manzur, A.Y.; et al. Impaired neuromuscular transmission and response to acetylcholinesterase inhibitors in centronuclear myopathies. Neuromuscul. Disord. 2011, 21, 379–386. [Google Scholar] [CrossRef] [PubMed]
Diagnosis | Number | Number (%) with Abnormal MCD |
---|---|---|
AIMG (Anti-MuSK n = 2) | 23 | 21 (91) |
Congenital Myasthenic Syndromes (CMS) | 46 | 39 (85) |
Dok 7 | 15 | 15 (100) |
ColQ | 9 | 8 (89) |
CHRNE | 4 | 4 (100) |
Rapsyn | 3 | 3 (100) |
CHRNG | 3 | 2 (67) |
Slow channel syndrome | 2 | 2 (100) |
GFPT1 | 2 | 2 (100) |
GMPPB | 7 | 2 (29) |
Agrin | 1 | 1 (100) |
Probable Myasthenia (not otherwise specified) | 25 | 19 (76) |
Neuromuscular Blocking Agents (NMBA) | 3 | 3 (100) |
Botulism | 9 | 7 (78) |
Primary NMJ Diagnoses (Total) | 106 | 89 (84) |
Repetitive Nerve Stimulation | ||||
---|---|---|---|---|
Positive | Negative | |||
SPACE | Positive | 29 | 18 | 47 |
Negative | 1 | 0 | 1 | |
Total | 30 | 18 | 48 |
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Pitt, M. Neurophysiological Assessment of Abnormalities of the Neuromuscular Junction in Children. Int. J. Mol. Sci. 2018, 19, 624. https://doi.org/10.3390/ijms19020624
Pitt M. Neurophysiological Assessment of Abnormalities of the Neuromuscular Junction in Children. International Journal of Molecular Sciences. 2018; 19(2):624. https://doi.org/10.3390/ijms19020624
Chicago/Turabian StylePitt, Matthew. 2018. "Neurophysiological Assessment of Abnormalities of the Neuromuscular Junction in Children" International Journal of Molecular Sciences 19, no. 2: 624. https://doi.org/10.3390/ijms19020624