title: [Modern diagnostic approaches to malignant hyperthermia susceptibility].
abstract: Malignant hyperthermia is a well-known rare life-threatening autosomal-dominant pharmacogenetic disease, The arti- cle deals with a halothane-caffeine contracture test. The test is a model of muscle reaction to triggers in-vitro and it is the "golden standard" for malignant hyperthermia susceptibility (MHS) diagnosis. Genetic analysis is less invasive, but its sensitivity is significantly lower. The review discusses both the methods which are essential to be completely reproduced in Russia, and their role in modern approach to MHS diagnosis.
authors.forename: A A
authors.initials: AA
authors.lastname: Kazantseva
authors.forename: K M
authors.initials: KM
authors.lastname: Lebedinskiĭ
mesh_terms: D000818:Animals; D002110:Caffeine; D020022:Genetic Predisposition to Disease; D005820:Genetic Testing; D006221:Halothane; D006801:Humans; D008305:Malignant Hyperthermia / Q000175:diagnosis* / Q000235:genetics / Q000503:physiopathology; D009119:Muscle Contraction / Q000187:drug effects*; D018482:Muscle, Skeletal / Q000187:drug effects* / Q000503:physiopathology; D009154:Mutation; D019837:Ryanodine Receptor Calcium Release Channel / Q000235:genetics
chemical_list: D019837:Ryanodine Receptor Calcium Release Channel; D002110:Caffeine; D006221:Halothane