[EMG-findings in typ-II-glycogenosis (Pompe's disease, acid maltase deficiency) (author's transl)].
EMG findings of two patients (one 43 years old male; one 47 years old female) with Typ-II-glycogenosis are referred. The diagnosis is proofed by enzym histochemical, ultrastructural and biochemical investigations. The EMG findings were characterized by vivacious spontaneous activity and the high rate of different EMG pattern in one patient. Beside myopathic patterns existed neurogenic patterns and spontaneous activities as pseudomyotonic discharges, fibrillations and positive sharp-waves. Case I showed myotonic discharges too. These EMG findings are compared with the histological findings. Signs of differentiation between myotonic and pseudomyotonic discharges especially in view of Typ II glycogenosis is discussed. The EMG findings of the two investigated patients are compared with others of the literature.
D000328:Adult; D004576:Electromyography; D005260:Female; D006008:Glycogen Storage Disease / Q000175:diagnosis*; D006009:Glycogen Storage Disease Type II / Q000175:diagnosis* / Q000503:physiopathology; D006801:Humans; D008297:Male; D008875:Middle Aged; D009132:Muscles / Q000503:physiopathology; D009469:Neuromuscular Junction / Q000503:physiopathology; D000520:alpha-Glucosidases / Q000172:deficiency
D000520:alpha-Glucosidases
EMG-Befunde bei der Glykogenspeicherkrankheit Typ II (Morbus Pompe, Saure-Maltase-Mangel-Syndrom).