title: An unusual case with myotonia.
abstract: We report an unusual case involving a patient with myotonia. A 57-year-old man had multisystemic symptoms including skeletal muscle weakness, atrophy and percussion myotonia, cataract, heart involved, gastrointestinal tract symptoms, and urinary incontinence. The electromyography revealed myotonic discharges. Muscle biopsy showed myopathic features and a striking number of ring fibers. It was genetically proven that the case was not myotonic dystrophy type 1 (DM1) or 2 (DM2). The case might be DM3 or an unusual case of unclassified myopathy with multisystemic damage.
authors: Department of Neurology, Xuan Wu Hospital, Capital Medical University, Beijing, China. cnyuweida@yeah.net
authors: Yu-Wei
authors: YW
authors: Da
authors: Min
authors: M
authors: Wang
authors: Yun
authors: Y
authors: Li
authors: Yan
authors: Y
authors: Lu
authors: Jian-Ping
authors: JP
authors: Jia
mesh_terms: D004576:Electromyography; D006801:Humans; D008297:Male; D008875:Middle Aged; D018485:Muscle Fibers, Skeletal / Q000473:pathology*; D018908:Muscle Weakness / Q000473:pathology; D009133:Muscular Atrophy / Q000473:pathology; D009222:Myotonia / Q000175:diagnosis / Q000473:pathology* / Q000503:physiopathology; D014549:Urinary Incontinence / Q000473:pathology / Q000503:physiopathology