[McArdle's disease--description based on three own observations (author's transl)].
The paper reports on three observations made by the authors of McArdle's Disease. Characteristic symptoms are a premature tiring of the musculature and painful muscle contractions; in the late stage of the disease, mild muscle atrophy can also occur. The ischemia test is is pathologic. Myoglobinuria often occurs after major strain. Studies by light microscope and the electron-microscope result in an increased glycogen deposit in the muscle fiber. The diagnosis is verfied by the histochemical and biochemical proof of muscle phosphorylase deficiency. Routine histologic investigation of muscle biopsy is not sufficient to identify the disease. Despite the established enzyme defect and the resulting impairment of anerobic energy availability, the genesis of the disease or syndrome has not yet been fully clarified.
D000328:Adult; D005260:Female; D006003:Glycogen / Q000032:analysis; D006008:Glycogen Storage Disease / Q000175:diagnosis*; D006012:Glycogen Storage Disease Type V / Q000150:complications / Q000175:diagnosis* / Q000473:pathology; D006801:Humans; D008875:Middle Aged; D009132:Muscles / Q000648:ultrastructure; D009212:Myoglobinuria / Q000150:complications; D005082:Physical Exertion
D006003:Glycogen
Das McArdlesche Syndrom--Darstellung anhand von drei eigenen Beobachtungen.