Abnormal spontaneous activity in primary myopathic disorders
Monika Nojszewska MD, PhD
Department of Neurology, Medical University of Warsaw, Warsaw, Poland
Search for more papers by this authorCorresponding Author
Malgorzata Gawel MD
Department of Neurology, Medical University of Warsaw, Warsaw, Poland
Correspondence to: M. Gawel; e-mail: [email protected]Search for more papers by this authorElzbieta Szmidt-Salkowska MD
Department of Neurology, Medical University of Warsaw, Warsaw, Poland
Search for more papers by this authorAnna Kostera-Pruszczyk MD
Department of Neurology, Medical University of Warsaw, Warsaw, Poland
Search for more papers by this authorAnna Potulska-Chromik MD
Department of Neurology, Medical University of Warsaw, Warsaw, Poland
Search for more papers by this authorAnna Lusakowska MD, PhD
Department of Neurology, Medical University of Warsaw, Warsaw, Poland
Search for more papers by this authorBiruta Kierdaszuk MD, PhD
Department of Neurology, Medical University of Warsaw, Warsaw, Poland
Search for more papers by this authorMarta Lipowska MD, PhD
Department of Neurology, Medical University of Warsaw, Warsaw, Poland
Search for more papers by this authorAnna Macias MD, PhD
Department of Neurology, Medical University of Warsaw, Warsaw, Poland
Search for more papers by this authorDamian Gawel MSc
Department of Biochemistry and Molecular Biology, Centre of Postgraduate Medical Education, Marymoncka Strasse 99/103, 01-813 Warsaw, Poland
Search for more papers by this authorAndrzej Seroka BSc
Department of Neurology, Medical University of Warsaw, Warsaw, Poland
Search for more papers by this authorAnna M. Kaminska MD
Department of Neurology, Medical University of Warsaw, Warsaw, Poland
Search for more papers by this authorMonika Nojszewska MD, PhD
Department of Neurology, Medical University of Warsaw, Warsaw, Poland
Search for more papers by this authorCorresponding Author
Malgorzata Gawel MD
Department of Neurology, Medical University of Warsaw, Warsaw, Poland
Correspondence to: M. Gawel; e-mail: [email protected]Search for more papers by this authorElzbieta Szmidt-Salkowska MD
Department of Neurology, Medical University of Warsaw, Warsaw, Poland
Search for more papers by this authorAnna Kostera-Pruszczyk MD
Department of Neurology, Medical University of Warsaw, Warsaw, Poland
Search for more papers by this authorAnna Potulska-Chromik MD
Department of Neurology, Medical University of Warsaw, Warsaw, Poland
Search for more papers by this authorAnna Lusakowska MD, PhD
Department of Neurology, Medical University of Warsaw, Warsaw, Poland
Search for more papers by this authorBiruta Kierdaszuk MD, PhD
Department of Neurology, Medical University of Warsaw, Warsaw, Poland
Search for more papers by this authorMarta Lipowska MD, PhD
Department of Neurology, Medical University of Warsaw, Warsaw, Poland
Search for more papers by this authorAnna Macias MD, PhD
Department of Neurology, Medical University of Warsaw, Warsaw, Poland
Search for more papers by this authorDamian Gawel MSc
Department of Biochemistry and Molecular Biology, Centre of Postgraduate Medical Education, Marymoncka Strasse 99/103, 01-813 Warsaw, Poland
Search for more papers by this authorAndrzej Seroka BSc
Department of Neurology, Medical University of Warsaw, Warsaw, Poland
Search for more papers by this authorAnna M. Kaminska MD
Department of Neurology, Medical University of Warsaw, Warsaw, Poland
Search for more papers by this authorABSTRACT
Introduction
Reproducible non-insertional spontaneous activity (SA), with the exception of endplate activity, is an unequivocal sign of abnormality and is one of the most useful findings obtained on electromyography.
Methods
In this retrospective study we analyzed occurrence and distribution of abnormal SA in 151 patients with genetically confirmed myopathies.
Results
Complex repetitive discharges (CRDs) occurred more frequently than fibrillation potentials (fibs) and positive sharp waves (PSWs) in centronuclear myopathy (CNM) and limb-girdle muscular dystrophy type 2A (LGMD-2A), whereas fibs/PSWs were observed more often in desminopathy and facioscapulohumeral dystrophy (FSHD). Abnormal SA was commonly found in CNM (66.7%) and desminopathy (61.5%), occasionally in Duchenne (DMD) and Becker muscular dystrophy (BMD) (45.2% and 27.6%, respectively), but rarely in FSHD (14.9%) and LGMD-2A (12.0%).
Conclusions
Abnormal SA probably occurs more frequently in disorders associated with structural changes in muscle fibers. Screening for SA may be a valuable tool for diagnosis of non-myotonic myopathies. Muscle Nerve 56: 427–432, 2017
REFERENCES
- 1American Association of Electrodiagnostic Medicine glossary of terms in electrodiagnostic medicine. Muscle Nerve 2001; 42(suppl 10): S1–S50.
- 2 Kimura J. Types of electromyographic abnormalities. In: J Kimura, editor. Electrodiagnosis in diseases of nerve and muscle: principles and practice, 3rd ed. Oxford: Oxford University Press; 2001. p 346–349.
- 3 Machuca-Tzili L, Brook D, Hilton-Jones D. Clinical and molecular aspects of the myotonic dystrophies: a review. Muscle Nerve 2005; 32: 1–18.
- 4 Fellows LE, Foster BJ, Chalk CH. Clinical significance of complex repetitive discharges: a case-control study. Muscle Nerve 2003; 28: 504–507.
- 5 Nakano S, Engel AG, Waclawik AJ, Emslie-Smith AM, Busis NA. Myofibrillar myopathy with abnormal foci of desmin positivity. 1. Light and electron microscopy analysis of 10 cases. J Neuropathol Exp Neurol 1996; 55: 549–562.
- 6 Gilchrist JM, Pericak-Vance M, Silverman L, Roses AD. Clinical and genetic investigation in autosomal dominant limb-girdle muscular dystrophy. Neurology 1988; 38: 5–9.
- 7 Hauser MA, Horrigan SK, Salmikangas P, Torian UM, Viles KD, Dancel R, et al Myotilin is mutated in limb girdle muscular dystrophy 1A. Hum Mol Genet 2000; 9: 2141–2147.
- 8 Markesbery WR, Griggs RC, Leach RP, Lapham LW. Late onset hereditary distal myopathy. Neurology 1974; 24: 127–134.
- 9 Griggs R, Vihola A, Hackman P, Talvinen K, Haravuori H, Faulkner G, et al Zaspopathy in a large classic late-onset distal myopathy family. Brain 2007; 130: 1477–1484.
- 10 Selcen D. Myofibrillar myopathies. Neuromuscul Disord 2011; 21: 161–171.
- 11 Clemen CS, Herrmann H, Strelkov SV, Schröder R. Desminopathies: pathology and mechanisms. Acta Neuropathol 2013; 125: 47–75.
- 12 Goldfarb LG, Park KY, Cervenakova L, Gorokhova S, Lee HS, Vasconcelos O, et al Missense mutations in desmin associated with familial cardiac and skeletal myopathy. Nat Genet 1998; 19: 402–403.
- 13 Munoz-Marmol AM, Strasser G, Isamat M, Coulombe PA, Yang Y, Roca X, et al A dysfunctional desmin mutation in a patient with severe generalized myopathy. Proc Natl Acad Sci USA 1998; 95: 11312–11317.
- 14 Olive M, Kley RA, Goldfarb LG. Myofibrillar myopathies: new developments. Curr Opin Neurol 2013; 26: 527–535.
- 15 Selcen D, Ohno K, Engel AG. Myofibrillar myopathy: clinical, morphological and genetic studies in 63 patients. Brain 2004; 127: 439–451.
- 16 Hanisch F, Kraya T, Kornhuber M, Zierz S. The diagnostic impact of myotonic discharges in myofibrillar myopathies. Muscle Nerve 2013; 47: 845–848.
- 17 Kley RA, Hellenbroich Y, van der Ven PFM, Fürst DO, Huebner A, Bruchertseifer V, et al Clinical and morphological phenotype of the filamin myopathy: a study of 31 German patients. Brain 2007; 130: 3250–3264.
- 18 Emeryk-Szajewska B, Kopec J. Electromyographic pattern in Duchenne and Becker muscular dystrophy. Part II: Electromyographic pattern in Becker muscular dystrophy in comparison with Duchenne muscular dystrophy. Electromyogr Clin Neurophysiol 2008; 48: 279–284.
- 19 Hanisch F, Kronenberger C, Zierz S, Kornhuber M. The significance of pathological spontaneous activity in various myopathies. Clin Neurophysiol 2014; 125: 1485–1490.
- 20
Felice KJ. Distal weakness in dystrophin-deficient muscular dystrophy. Muscle Nerve 1996; 19: 1608–1610.
10.1002/(SICI)1097-4598(199612)19:12<1608::AID-MUS12>3.0.CO;2-N CAS PubMed Web of Science® Google Scholar
- 21 Beltran Papsdorf T, Howard JF, Chahin N. The late-onset Becker muscular dystrophy: refining the clinical features and electrophysiological findings. Muscle Nerve 2015; 52: 885–887.
- 22 Flanigan KM. Duchenne and Becker muscular dystrophies. Neurol Clin 2014; 32: 671–688.
- 23 Schreiber O, Schneiderat P, Kress W, Rautenstrauss B, Senderek J, Schoser B, et al Facioscapulohumeral muscular dystrophy and Charcot-Marie-Tooth neuropathy 1A—evidence for “double trouble” overlapping syndromes. BMC Med Genet 2013; 14: 92.
- 24 Emery AEH. The muscular dystrophies. Lancet 2002; 359: 687–695.
- 25 Fischer D, Kley RA, Starch K, Meyer C, Sommer T, Eger K, et al Distinct muscle imaging patterns in myofibrillar myopathies. Neurology 2008; 71: 758–765.
- 26 Fichna JP, Karolczak J, Potulska-Chromik A, Miszta P, Berdyński M, Sikorska A, et al Two desmin gene mutations associated with myofibrillar myopathies in Polish families. PLoS One 2014; 9: e115470.
- 27 Bitoun M. Maugenre S, Jeannet PY, Lacène E, Ferrer X, Laforêt P, et al Mutations in dynamin 2 cause dominant centronuclear myopathy. Nat Genet 2005; 37: 1207–1209.
- 28 Susman RD, Quijano-Roy S, Yang N, Webster R, Clarke NF, Dowling J, et al Expanding the clinical pathological and MRI phenotype of DNM2-related centronuclear myopathy. Neuromuscul Disord 2010; 20: 229–237.
- 29 Kimura J. Myopathies. In: J Kimura, editor. Electrodiagnosis in diseases of nerve and muscle: principles and practice, 3rd ed. Oxford: Oxford University Press; 2001. p 779–790.
- 30 Fischer D, Herasse M, Bitoun M, Barragan-Campos HM, Chiras J, Laforet P, et al Characterization of the muscle involvement in dynamin 2-related centronuclear myopathy. Brain 2006; 129: 1463–1469.
- 31 Schessl J, Medne L, Hu Y, Zou Y, Brown MJ, Huse JT, et al MRI in DNM2-related centronuclear myopathy: evidence for highly selective muscle involvement. Neuromuscul Disord 2007; 17: 28–32.
- 32 Kierdaszuk B, Berdynski M, Karolczak J, Redowicz MJ, Zekanowski C, Kaminska AM. A novel mutation in the DNM2 gene impairs dynamin 2 localization in skeletal muscle of a patient with late onset centronuclear myopathy. Neuromuscul Disord 2013; 23: 219–228.
- 33 Hanisch F, Müller T, Dietz A, Bitoun M, Kress W, Weis J, et al. Phenotype variability and histopathological findings in centronuclear myopathy due to DNM2 mutations. J Neurol 2011; 258: 1085–1090.
- 34 Catteruccia M, Fattori F, Codemo V, Ruggiero L, Maggi L, Tasca G, et al Centronuclear myopathy related to dynamin 2 mutations: clinical, morphological, muscle imaging and genetic features of an Italian cohort. Neuromuscul Disord 2013; 23: 229–238.
- 35 Ishpekova B, Milanov I, Christova LG, Alexandrov AS. Comparative analysis between Duchenne and Becker types muscular dystrophy. Electromyogr Clin Neurophysiol 1999; 39: 315–318.
- 36 Emeryk-Szajewska B, Kopec J. Electromyographic pattern in Duchenne and Becker muscular dystrophy. Part I: Electromyographic pattern in subsequent stages of muscle lesion in Duchenne muscular dystrophy. Electromyogr Clin Neurophysiol 2008; 48: 265–277.
- 37 Dorobek M, Szmidt-Sałkowska E, Rowińska-Marcińska K, Gaweł M, Hausmanowa-Petrusewicz I. Relationships between clinical data and quantitative EMG findings in facioscapulohumeral muscular dystrophy. Neurol Neurochir Pol 2013; 47: 8–17.
- 38 Gilbert JR, Stajich JM, Wall S, Carter SC, Qiu H, Vance JM, et al Evidence for heterogeneity in facioscapulohumeral muscular dystrophy (FSHD). Am J Hum Genet 1993; 53: 401–408.
- 39 Nakagawa M, Matsuzaki T, Higuchi I, Fukunaga H, Inui T, Nagamitsu S, et al Facioscapulohumeral muscular dystrophy: clinical diversity and genetic abnormalities in Japanese patients. Intern Med 1997; 36: 333–339.
- 40 Felice KJ, Moore SA. Unusual clinical presentations in patients harboring the facioscapulohumeral dystrophy 4q35 deletion. Muscle Nerve 2001; 24: 352–356.
- 41 Butz M, Koch MC, Müller-Felber W, Lemmers RJ, van der Maarel SM, Schreiber H. Facioscapulohumeral muscular dystrophy. Phenotype-genotype correlation in patients with borderline D4Z4 repeat numbers. J Neurol 2003; 250: 932–937.
- 42 Munsat TL, Piper D, Cancilla P, Mednick J. Inflammatory myopathy with facioscapulohumeral distribution. Neurology 1972; 22: 335–347.
Citing Literature
