Malignant hyperthermia (MH): clinical features
Evidence-based neurology checklist on malignant hyperthermia (mh): clinical features: Genetics and pathology 50% of cases are caused by mutations in the ryanodine receptor 1 (RYR1) gene RYR1 controls calcium influx into muscles The transmission is autosomal dominant The mutation results in…
Genetics and pathology
- 50% of cases are caused by mutations in the ryanodine receptor 1 (RYR1) gene
- RYR1 controls calcium influx into muscles
- The transmission is autosomal dominant
- The mutation results in uncontrolled calcium influx into muscles
- Some cases are associated with mutations in the CACNA1S and STAC3 genes
At-risk factors
Triggers for episodes
Neurological features
Cardiorespiratory features
Other reported associations
Complications
References
- Heytens K, De Bleecker J, Verbrugghe W, Baets J, Heytens L. Exertional rhabdomyolysis and heat stroke: beware of volatile anesthetic sedation. World J Crit Care Med 2017; 6:21-27.
- Jurkatt-Rott K, Lerche H, Lehmann-Horn F. Skeletal muscle channelopathies. J Neurol 2002; 249:1493-1502.
- Munhoz RP, Moscovich M, Araujo PD, Tieve HAG. Movement disorders emergencies: a review. Arq Neuropsiquiatr 2012; 70:453-461.
- Toppin PJ, Chandy TT, Ghanekar A, Kraeva N, Beattie WS, Riazi S. A report of fulminant malignant hyperthermia in a patient with a novel mutation of the CACNA1S gene. Can J Anaesth 2010; 57:689-693.
- Hopkins PM, Girard T, Dalay S, Jenkins B, Thacker A, Patteril M, McGrady E. Malignant hyperthermia 2020: Guideline from the Association of Anaesthetists. Anaesthesia 2021; 76:655-664.
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