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Malignant Hyperthermia
Test Overview:
Maligant hyperthermia (MH) is an inherited disorder of skeletal muscle characterized by hypercarbia, rhabdomyolysis, generalized skeletal muscle contracture, cardiac dysrhythmia, and renal failure, that develops on exposure to succinylcholine or volatile anesthetic agents. Specific interventions, including use of the calcium release channel antagonist dantrolene, are efficacious in reversing signs of the canine syndrome.
Category:
Metabolic - Associated with the enzymes and metabolic processes of cells
Gene:
Ryanodine receptor 1 (RYR1) on Chromosome 1
Variant Detected:
Base Substitution c.1640T>C p.Val547Ala
Severity:
Moderate. This disease can cause significant signs of discomfort and/or dysfunction in affected animals. It may involve relatively high treatment/management costs, and can sometimes reduce life expectancy.
Mode of Inheritance:
Autosomal Recessive
Research Citation(s):
Roberts MC, et al. Autosomal dominant canine malignant hyperthermia is caused by a mutation in the gene encoding the skeletal muscle calcium release channel (RYR1). (2001) Anesthesiology 95;716-725.
Associated Breed(s):
Airedale Terrier, Akita , Australian Cobberdog, Australian Labradoodle , Collie Rough, Collie Smooth, Dobermann, English Pointer, English Springer Spaniel, German Shepherd Dog, Goldendoodle, Greyhound , Irish Wolfhound, Labradoodle , Labrador Retriever, Mixed Breed, Pointer,
