title: [McArdle's disease (a familial case)].
abstract: The author describes a family (48 year old mother and 15 year old son) with the muscular variant of glycogenosis-McArde's metabolic myopathy. The mother has been ill since 22 years old, the son--since 7. The disease had a slowly progressive development. The clinical picture was characterized by convulsions of the type of cramps following physical loadings on muscles of the body and extremities. Convulsions were accompanied by pain, an induration and enlargment of the muscles, muscle fatigue and increased significantly in an artifical ischemia of the extremities. A histochemical study of the muscle revealed a pathological accumulation of glycogen. The content of lactic and pyruvic acid in the blood after work in ischemic conditions did not change significantly. A study of the sugar curve in the blood with a loading with glucose and a parallel determination of insulin by a radioimmune method found hyperinsulinemia and a dysfunction of the pancreas.
mesh_terms: D000293:Adolescent; D005260:Female; D005951:Glucose Tolerance Test; D006003:Glycogen / Q000378:metabolism; D006008:Glycogen Storage Disease / Q000235:genetics*; D006012:Glycogen Storage Disease Type V / Q000188:drug therapy / Q000235:genetics* / Q000378:metabolism; D006651:Histocytochemistry; D006801:Humans; D007773:Lactates / Q000097:blood; D008297:Male; D008875:Middle Aged; D009132:Muscles / Q000378:metabolism / Q000473:pathology; D011773:Pyruvates / Q000097:blood
chemical_list: D007773:Lactates; D011773:Pyruvates; D006003:Glycogen
vernacular_title: Bolezn' MakArdlia (semeĭnoe nabliudenie)