title: [Malignant hyperthermia--a hereditary and potentially life-threatening condition].
abstract: BACKGROUND
  Malignant hyperthermia is a rare and possibly life-threatening complication to anaesthesia. It manifests in susceptible individuals as a hypermetabolic response on exposure to halogenated anaesthetics and depolarising muscle relaxants. Susceptibility to malignant hyperthermia is inherited as an autosomal dominant disorder and is associated with myopathies.
  
  
  METHODS
  We present a Norwegian family with central core disease and malignant hyperthermia susceptibility. A novel mutation (c.14558C>T) in the ryanodine receptor gene (RYR1), causing an amino acid change of a highly conserved residue (Thr4853Ile), has been identified in this family. We present a review of the literature on this disorder.
  
  
  CONCLUSIONS
  Modern medical treatment, including the use of dantrolene, has significantly reduced the mortality of malignant hyperthermia. The identification of susceptibility to malignant hyperthermia in patients can possibly further reduce the risk of death during and after anaesthesia. A contracture test of muscular tissue is performed in patients with suspected malignant hyperthermia and should be considered in family members. Molecular genetic examinations might be considered in some cases.
authors.affiliation: Department of Public Health, University of North Florida, USA.
authors.forename: Tonje
authors.initials: T
authors.lastname: Haugen
authors.forename: Mathias
authors.initials: M
authors.lastname: Toft
authors.forename: Clemens R
authors.initials: CR
authors.lastname: Müller
authors.forename: Jan
authors.initials: J
authors.lastname: Aasly
mesh_terms: D000328:Adult; D003620:Dantrolene / Q000627:therapeutic use; D005260:Female; D020022:Genetic Predisposition to Disease; D005820:Genetic Testing; D006801:Humans; D008297:Male; D008305:Malignant Hyperthermia / Q000150:complications / Q000175:diagnosis / Q000188:drug therapy / Q000235:genetics; D009119:Muscle Contraction / Q000187:drug effects; D009125:Muscle Relaxants, Central / Q000627:therapeutic use; D009154:Mutation; D019837:Ryanodine Receptor Calcium Release Channel / Q000235:genetics
chemical_list: D009125:Muscle Relaxants, Central; D019837:Ryanodine Receptor Calcium Release Channel; D003620:Dantrolene