Abstract
Malignant hyperthermia susceptibility (MHS) is an autosomal dominant disorder of muscle metabolism that is triggered by potent inhalational anesthetics and depolarizing muscle relaxants. The signs and symptoms associated with an episode of malignant hyperthermia can include generalized muscle rigidity, masseter muscle spasm, rhabdomyolosis, acidosis, and hyperthermia. However, the clinical expression of malignant hyperthermia varies greatly from patient to patient. Moreover, the diagnosis is not easily established on the basis of clinical evidence alone, because the signs and symptoms of malignant hyperthermia are nonspecific. Thus, a clinical diagnosis must be sought by performing an in vitro contracture test (IVCT) to halothane or caffeine. Because the IVCT is costly and invasive, numerous investigators are searching for a noninvasive diagnostic test using molecular genetic approaches [1]. However, the development of noninvasive molecular genetic tests for MHS will depend on the identification of the genes responsible for this disorder.