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The spectrum of myotonic and myopathic disorders in a pediatric electromyography laboratory over 12 years.
Pediatric Neurology 2012 August
This study assessed the spectrum of disorders associated with electrophysiologic myotonia in a pediatric electromyography laboratory. Records of 2234 patients observed in the Electromyography Laboratory at Boston Children's Hospital from 2000-2011 were screened retrospectively for electrophysiologic diagnoses of myotonia and myopathy. Based on electromyography, 11 patients manifested myotonic discharges alone, eight exhibited both myotonic discharges and myopathic motor unit potentials, and 54 demonstrated myopathic motor unit potentials alone. The final diagnoses of patients with myotonic discharges alone included myotonia congenita, paramyotonia congenita, congenital myopathy, and Pompe disease (acid maltase deficiency). The diagnoses of patients with both myotonic discharges and myopathic motor unit potentials included congenital myopathy and non-Pompe glycogen storage diseases. Myotonic discharges are rarely observed in a pediatric electromyography laboratory, but constitute useful findings when present. The presence or absence of concurrent myopathic motor unit potentials may help narrow the differential diagnosis further.
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