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[Diagnosis of susceptibility for malignant hyperthermia using in-vitro muscle contraction testing in Switzerland].

Abstract
Malignant hyperthermia is a potentially fatal pharmacogenetic disorder triggered by volatile anesthetics (halothane, enflurane, isoflurane) and/or succinylcholine. The inheritance of malignant hyperthermia susceptibility is thought to be autosomal dominant and the incidence could be as high as 1:10,000. The only generally accepted diagnostic method at present involves a muscle biopsy followed by in-vitro halothane and caffeine contracture tests. 100 individuals from 45 families who were considered to be potentially malignant hyperthermia-susceptible were investigated from 1986 to 1990 by in-vitro muscle contracture tests using the protocol of the European Malignant Hyperthermia Group. Of 45 families analyzed, 28 had at least one person who was susceptible to malignant hyperthermia with a total of 64 malignant hyperthermia-susceptible individuals. 36 subjects in the 45 families were normal. In addition, our study shows that a femoral nerve block can be used in outpatients as a reliable anesthetic technique to perform biopsies from the vastus medialis muscle for malignant hyperthermia screening.
AuthorsA Urwyler, K Censier, M D Seeberger, J Drewe, J M Rothenbühler, F Frei
JournalSchweizerische medizinische Wochenschrift (Schweiz Med Wochenschr) Vol. 121 Issue 16 Pg. 566-71 (Apr 20 1991) ISSN: 0036-7672 [Print] Switzerland
Vernacular TitleDiagnose der Maligne-Hyperthermie-Empfindlichkeit mittels In-vitro-Muskelkontrakturtestung in der Schweiz.
PMID2042040 (Publication Type: English Abstract, Journal Article)
Chemical References
  • Caffeine
  • Halothane
Topics
  • Adolescent
  • Adult
  • Aged
  • Aged, 80 and over
  • Biopsy
  • Caffeine (pharmacology)
  • Child
  • Female
  • Genetic Predisposition to Disease
  • Halothane (pharmacology)
  • Humans
  • In Vitro Techniques
  • Male
  • Malignant Hyperthermia (diagnosis, physiopathology)
  • Middle Aged
  • Muscle Contraction (drug effects)
  • Muscles (pathology)

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