A family with discordance between malignant hyperthermia susceptibility and rippling muscle disease
(2013) In Journal of Anesthesia 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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https://lup.lub.lu.se/record/3580885
- author
- Sundblom, Jimmy ; Melberg, Atle ; Rucker, Franz ; Smits, Anja and Islander, Gunilla LU
- organization
- publishing date
- 2013
- type
- Contribution to journal
- publication status
- published
- subject
- keywords
- Caveolin 3, Malignant hyperthermia susceptibility, Rippling muscle, disease, Calcium, Anesthesia
- in
- Journal of Anesthesia
- volume
- 27
- issue
- 1
- pages
- 128 - 131
- publisher
- Springer
- external identifiers
-
- wos:000315042200021
- scopus:84874114855
- pmid:22976939
- 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
- 2016-04-01 14:08:47
- date last changed
- 2022-01-27 23:01:18
@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}}, keywords = {{Caveolin 3; Malignant hyperthermia susceptibility; Rippling muscle; disease; Calcium; Anesthesia}}, language = {{eng}}, number = {{1}}, pages = {{128--131}}, publisher = {{Springer}}, series = {{Journal of Anesthesia}}, title = {{A family with discordance between malignant hyperthermia susceptibility and rippling muscle disease}}, url = {{http://dx.doi.org/10.1007/s00540-012-1482-7}}, doi = {{10.1007/s00540-012-1482-7}}, volume = {{27}}, year = {{2013}}, }