Malignant hyperthermia (MH)
Malignant hyperthermia (MH)
General description
Maligant hyperthermia (MH) is an inherited disorder of skeletal muscle characterized by hypercarbia, rhabdomyolysis, generalized skeletal muscle contracture, cardiac dysrhythmia, and renal failure.
Order details
| Test number | 8062 |
| Abbreviation | MH |
| Sample material | 0.5 ml EDTA blood, 2x cheek swab, 1x special swab (eNAT) |
| Test duration | 3-5 working days |
Test specifications
| Symptom complex | metabolic |
| Inheritance | autosomal dominant |
| Causality | causally |
| Gene | RYR1 |
| Mutation | A-G |
| Literature | OMIA:000621-9615 |
Detailed description
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.
