[Malignant hyperthermia. II. Investigation of the patient's family (author's transl)].
In connection with malignant hyperthermia the afflicted girl and her blood relations from 4 generations were investigated. Noteworthy in the case histories were fractures following minor traumas of the brother and epilepsy in 3 cases. The serum CK was increased in 6 individuals. The EMG showed alterations in 3 participants which pointed to discrete myopathy. The muscle biopsies of patient and parents were normal under microscope and electron microscope. The findings are consistent to the accepted theories of hereditary mode. Due to inadequate means of predicting the onset, early recognition and treatment of malignant hyperthermia remain essential. Promising prohibitive and curative results have been brought about with Dantrolene in animal experiments.
D002675:Child, Preschool; D003402:Creatine Kinase / Q000378:metabolism; D003620:Dantrolene / Q000627:therapeutic use; D004576:Electromyography; D005260:Female; D006801:Humans; D007527:Isoenzymes; D008305:Malignant Hyperthermia / Q000188:drug therapy / Q000235:genetics*; D009132:Muscles / Q000473:pathology; D010375:Pedigree
D007527:Isoenzymes; D003402:Creatine Kinase; D003620:Dantrolene
Maligne Hyperthermie. II. Befragung und Untersuchung von Familienmitgliedern einer Erkrankten.