Absent, unrecognized, and minimal myotonic discharges in myotonic dystrophy type 2

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<jats:title>Abstract</jats:title><jats:p>The purpose of this study was to describe the frequency of absent, unrecognized, or minimal myotonic discharges (MDs) in myotonic dystrophy type 2 (DM2). We performed a retrospective review of needle electromyography (EMG) data prior to genetic diagnosis in 49 DM2 patients at the Mayo Clinic. MDs were not reported on first or repeat EMG studies (<jats:italic>n</jats:italic> = 8) and not found in archived recordings of 4 patients (8%); archived EMG recordings (<jats:italic>n</jats:italic> = 4) confirmed the absence of MDs (<jats:italic>n</jats:italic> = 2), including 1 patient with normal insertional activity in all muscles, and misinterpretation of MDs as slow fibrillation potentials (<jats:italic>n</jats:italic> = 1) and complex repetitive discharge (CRD) activity (<jats:italic>n</jats:italic> = 1). Eight (16%) patients had minimal classic MDs with diffusely increased insertional activity, including waning‐only MDs in all patients in this group with archived EMG recordings (<jats:italic>n</jats:italic> = 5). Diffuse MDs were found in 33 (67%) patients. Absent or minimal MDs do not exclude DM2. Over‐reliance on diffuse MDs in patients who present with myopathy may lead to delay in genetic diagnosis of DM2. Muscle Nerve, 2010</jats:p>

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