A family with discordance between Malignant hyperthermia susceptibility and Rippling muscle disease
2013 (English)In: Journal of Anesthesia, ISSN 0913-8668, E-ISSN 1438-8359, Vol. 27, no 1, 128-131 p.Article in journal (Refereed) Published
Rippling muscle disease (RMD) is a benign disorder affecting striated muscle.Malignant hyperthermia (MH) susceptibility is a potentially lethal disorder in which otherwise healthy individuals can develop an extreme hypermetabolism and muscle rigidity/rhabdomyolysis during anesthesia with potent inhalational agents and/or succinylcholine. Disturbed calcium homeostasis has been suggested as the cause of RMD symptoms. Uncontrolled increase in intracellular calcium concentration starts a MH reaction.
To investigate if there is a relation between RMD and MH susceptibility in a family with both RMD and MH susceptibility.
Materials and methods
Ten members of a family segregating RMD had, prior to RMD diagnosis, been investigated for MH susceptibility. Results from MH and RMD investigations and anesthesia outcomes were cross-referenced and evaluated to find connections or phenotype variations predicted by in vitro contracture test results.
There was no relation between RMD and MH susceptibility. There were no adverse anesthesia reactions recorded in this family.
RMD and MH susceptibility did not co-segregate. RMD patients should probably not be considered at risk for MH reactions.
Place, publisher, year, edition, pages
2013. Vol. 27, no 1, 128-131 p.
Caveolin 3, Malignant Hyperthermia, Rippling muscle disease, Calcium, Anesthesia
Anesthesiology and Intensive Care Neurology
Research subject Anaesthesiology and Intensive Care; Neurology
IdentifiersURN: urn:nbn:se:uu:diva-162047DOI: 10.1007/s00540-012-1482-7ISI: 000315042200021PubMedID: 22976939OAI: oai:DiVA.org:uu-162047DiVA: diva2:458422