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

Sundblom, Jimmy; Melberg, Atle; Rucker, Franz; Smits, Anja and Islander, Gunilla LU (2013) In Journal of Anesthesia1987-01-01+01:00 27(1). p.128-131
Abstract
Rippling muscle disease (RMD) is a disorder that affects striated muscle and involves disturbances in calcium homeostasis. Malignant hyperthermia susceptibility (MHS) is a potentially lethal disorder, characterized by extreme hypermetabolism and muscle rigidity/rhabdomyolysis during anesthesia with potent inhalational agents, in otherwise healthy individuals. The aim of this report was to search for a correlation between RMD and MHS in members of a family in which both disorders were present. Ten members of a large Swedish family segregating RMD were tested for MHS prior to establishing an RMD diagnosis. Results from diagnostic RMD investigations and anesthesia outcomes were collected and cross-referenced to evaluate whether phenotype... (More)
Rippling muscle disease (RMD) is a disorder that affects striated muscle and involves disturbances in calcium homeostasis. Malignant hyperthermia susceptibility (MHS) is a potentially lethal disorder, characterized by extreme hypermetabolism and muscle rigidity/rhabdomyolysis during anesthesia with potent inhalational agents, in otherwise healthy individuals. The aim of this report was to search for a correlation between RMD and MHS in members of a family in which both disorders were present. Ten members of a large Swedish family segregating RMD were tested for MHS prior to establishing an RMD diagnosis. Results from diagnostic RMD investigations and anesthesia outcomes were collected and cross-referenced to evaluate whether phenotype variations could be predicted by in vitro contracture test (IVCT) results suggestive of MHS. No correlation was found between individual RMD phenotypes and the IVCT results. There were no recorded adverse reactions to anesthesia, and RMD and MHS did not co-segregate. We conclude that RMD patients should not, on the basis of our present knowledge, be classified as having MHS; however, an increased surveillance for MH reactions is recommended in these patients. (Less)
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author
organization
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type
Contribution to journal
publication status
published
subject
keywords
Caveolin 3, Malignant hyperthermia susceptibility, Rippling muscle, disease, Calcium, Anesthesia
in
Journal of Anesthesia1987-01-01+01:00
volume
27
issue
1
pages
128 - 131
publisher
Springer
external identifiers
  • wos:000315042200021
  • scopus:84874114855
ISSN
0913-8668
DOI
10.1007/s00540-012-1482-7
language
English
LU publication?
yes
id
23a62474-8067-47f6-94ae-77f23867d2e2 (old id 3580885)
date added to LUP
2013-04-02 07:45:38
date last changed
2019-02-20 06:20:48
@article{23a62474-8067-47f6-94ae-77f23867d2e2,
  abstract     = {Rippling muscle disease (RMD) is a disorder that affects striated muscle and involves disturbances in calcium homeostasis. Malignant hyperthermia susceptibility (MHS) is a potentially lethal disorder, characterized by extreme hypermetabolism and muscle rigidity/rhabdomyolysis during anesthesia with potent inhalational agents, in otherwise healthy individuals. The aim of this report was to search for a correlation between RMD and MHS in members of a family in which both disorders were present. Ten members of a large Swedish family segregating RMD were tested for MHS prior to establishing an RMD diagnosis. Results from diagnostic RMD investigations and anesthesia outcomes were collected and cross-referenced to evaluate whether phenotype variations could be predicted by in vitro contracture test (IVCT) results suggestive of MHS. No correlation was found between individual RMD phenotypes and the IVCT results. There were no recorded adverse reactions to anesthesia, and RMD and MHS did not co-segregate. We conclude that RMD patients should not, on the basis of our present knowledge, be classified as having MHS; however, an increased surveillance for MH reactions is recommended in these patients.},
  author       = {Sundblom, Jimmy and Melberg, Atle and Rucker, Franz and Smits, Anja and Islander, Gunilla},
  issn         = {0913-8668},
  keyword      = {Caveolin 3,Malignant hyperthermia susceptibility,Rippling muscle,disease,Calcium,Anesthesia},
  language     = {eng},
  number       = {1},
  pages        = {128--131},
  publisher    = {Springer},
  series       = {Journal of Anesthesia1987-01-01+01:00},
  title        = {A family with discordance between malignant hyperthermia susceptibility and rippling muscle disease},
  url          = {http://dx.doi.org/10.1007/s00540-012-1482-7},
  volume       = {27},
  year         = {2013},
}