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Malignant Hyperthermia

General

Disease Name
Malignant Hyperthermia
Mutation
T to C substitution
Mutation 2
c.1640T>C
Test Type
Genetic Disease/Disorder
Details
Hyperthermia is a challenging condition as many dogs present as outwardly healthy. Affected dogs develop signs primarily in response to chemical triggers, worsened by stress. Symptoms include: hypercapnea, tachycardia, and hyperthermia during general anesthesia, progressing to: cardiac dysrhythmia, rhabdomyolysis, renal failure, and death. Although thought to be uncommon, it is difficult to estimate because dogs appear normal until exposed to a trigger, and may die before diagnosis.
Details 2
Hyperthermia is a challenging condition as many dogs present as outwardly healthy. Affected dogs develop signs primarily in response to chemical triggers, worsened by stress. Symptoms include: hypercapnea, tachycardia, and hyperthermia during general anesthesia, progressing to: cardiac dysrhythmia, rhabdomyolysis, renal failure, and death. Although thought to be uncommon, it is difficult to estimate because dogs appear normal until exposed to a trigger, and may die before diagnosis.
Published
Roberts, M.C., Mickelson, J.R., Patterson, E.E., Nelson, T.E., Armstrong, P.J., Brunson, D.B., Hogan, K. : Autosomal dominant canine malignant hyperthermia is caused by a mutation in the gene encoding the skeletal muscle calcium release channel (RYR1) Anesthesiology 95:716-725, 2001. Pubmed reference: 11575546.
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