AFIM – Italian Families Malignant Hyperthermia

The malignant hyperthermia (MH) is a pharmacogenetic disease of skeletal muscles, which is characterized by a hypermetabolic response to strong volatile anesthetic gases. The signs of MH include marked hyperthermia, tachycardia, tachypnea, increased carbon dioxide production, increase oxygen consumption, acidosis, muscle rigidity and rhabdomyolysis. This syndrome is inherited in an autosomal dominant fashion involving RYR-1 gene. Over 90 mutations have been identified in the RYR-1 gene and at least 25 of these mutations are responsible for the MH. The identification of genetic mutations correlated to the disease has allowed the implementation of genetic testing for susceptibility to MH. Further molecular genetic studies will be of great help for identifying other correlated mutations.

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Fondazione Malattie Rare “Mauro Baschirotto” Onlus
Via Bartolomeo Bizio, 1
36023 Costozza di Longare (Vicenza)

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