NEW GENES IN NEUROMUSCULAR DISEASES: O.03 Dominant mutations in the junctin gene are related to malignant hyperthermia and exertional heat stroke

Y Endo,L Groom,N Kraeva,A Celic,P Hopkins,S Riazi,R Dirksen,J Dowling

doi:10.1016/j.nmd.2020.08.005

NEW GENES IN NEUROMUSCULAR DISEASES: O.03 Dominant mutations in the junctin gene are related to malignant hyperthermia and exertional heat stroke

Y Endo, L Groom + Show 6 more

Open Access

https://doi.org/10.1016/j.nmd.2020.08.005

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Journal: Neuromuscular disorders : NMD

Publication Date: Sep 28, 2020

Affiliation: Hospital for Sick Children, University of Rochester, Toronto General Hospital, University of Leeds

#Exertional Heat Stroke #Malignant Hyperthermia + Show 8 more

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Abstract

Malignant hyperthermia (MH) and Exertional Heat Stroke (EHS) present hypermetabolic states leading to rhabdomyolysis and muscle rigidity with progressive hyperthermia; MH is triggered by volatile inhaled anesthetics, while EHS is triggered by exercise in hot/humid environment. Given the similarity of clinical features and the fact that a portion of EHS cases were diagnosed as MH susceptible by the in vitro contracture test, MH and EHS are believed to share common etiology. Mutations in RYR1 and CACNA1S have been found to be associated with MH; however the genetic cause remains to be identified in approximately 30% of MH cases.

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