Ryanodine receptor-1 related malignant hyperthermia and exertional rhabdomyolysis: Towards improving personalized care

Abstract

Malignant hyperthermia is a rare but life-threatening complication of general anaesthesia. Patients with susceptibility to malignant hyperthermia can develop a life-threatening high body temperature and muscle breakdown when exposed to specific medication used during general anaesthesia. Malignant hyperthermia susceptibility is in most cases caused by variants in the RYR1 gene. This thesis presents the evidence that eight variants in the RYR1 gene cause malignant hyperthermia susceptibility. Carriers of these variants in the RYR1 gene can currently be diagnosed using blood tests before they are exposed to general anaesthesia. Furthermore, this thesis presents the evidence that patients with variants in the RYR1 gene can also have neuromuscular symptoms without exposure to general anaesthesia. These symptoms usually are myalgia, cramps and mild muscle weakness.