Equine malignant hyperthermia (EMH)
Equine Malignant Hyperthermia (EMH) is a life-threatening pharmacogenetic disorder of skeletal... mehr
Erkrankung
Equine Malignant Hyperthermia (EMH) is a life-threatening pharmacogenetic disorder of skeletal muscle elicited by halogenated anesthetics, depolarizing muscle relaxants, and stress. Dysfunction of RyR1 (calcium release channel of the sarcoplasmic reticulum of skeletal muscle) results in excessive release of calcium into the myoplasm-triggering cascade events that lead to a hypermetabolic state and ultimately cell death. Clinical and laboratory manifestations include tachycardia, hyperthermia, muscle rigidity, rhabdomyolysis, respiratory and metabolic acidosis, and electrolyte derangements.
Erbgang
autosomal dominant
Testdauer
3 - 5 days after arrival of the sample in the lab
