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A family with discordance between malignant hyperthermia susceptibility and rippling muscle disease

Jimmy Sundblom1, Atle Melberg, Franz Rücker

  • 1Department of Neuroscience, Neurology, University Hospital, Uppsala University, 751 85, Uppsala, Sweden. jimmy.sundblom@neuro.uu.se

Journal of Anesthesia
|September 15, 2012
PubMed

Insights

Rippling muscle disease (RMD) and Malignant hyperthermia susceptibility (MHS) do not correlate in a Swedish family. RMD patients are not classified as MHS, but vigilance for MH reactions is advised.

Area of Science:

  • Neurology
  • Genetics
  • Anesthesiology

Background:

  • Rippling muscle disease (RMD) affects striated muscle and calcium homeostasis.
  • Malignant hyperthermia susceptibility (MHS) is a severe hypermetabolic response to anesthesia.
  • Both RMD and MHS involve muscle physiology but their relationship is unclear.

Purpose of the Study:

  • To investigate a potential correlation between RMD and MHS in a family with both conditions.
  • To determine if MHS diagnostic tests predict RMD phenotype variations.
  • To assess anesthesia outcomes in individuals with RMD.

Main Methods:

  • Ten members of a Swedish family with RMD were tested for MHS using in vitro contracture tests (IVCT).
  • RMD diagnostic results and anesthesia outcomes were collected and cross-referenced.
  • Phenotype variations were evaluated against IVCT results.

Main Results:

  • No correlation was found between RMD phenotypes and IVCT results indicative of MHS.
  • RMD and MHS did not co-segregate within the family.
  • No adverse anesthesia reactions were recorded in the studied RMD patients.

Conclusions:

  • RMD patients should not currently be classified as having MHS based on this study.
  • Further surveillance for malignant hyperthermia reactions is recommended for RMD patients.
  • Understanding the distinct pathophysiologies of RMD and MHS is crucial.

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