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Malignant Hyperthermia – Causes

January 27, 2021
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Malignant hyperthermia is caused by a receptor mutation on the cell level, in the skeletal muscle. During a normal muscle contraction, there is a rapid rise of calcium intracellularly in the skeletal muscle. That rise can be thousand-fold, but is rapidly reversed by uptake of calcium into the muscle cell structures in a healthy patient. In malignant hyperthermia, susceptible patients, despite working off the muscle cell structures, there is no re-uptake because of the mutation of a specific receptor that keeps on pumping calcium into the muscle cells. Unfortunately, patients with underlying muscle abnormalities, for example, neural muscular disorders, they include Duchenne's muscular dystrophy, central core disease and osteogenesis imperfecta, have a higher incidence of malignant hyperthermia. There is a genetic component to malignant hypothermia. If one parent has the gene for malignant hyperthermia, the child will also be susceptible to malignant hyperthermia. Only one parent with the malignant hyperthermia gene is needed to give malignant hyperthermia to their child. Malignant hyperthermia is inherited autosomal dominant, which again means the offspring will also be susceptible to malignant hyperthermia.

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