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A family with discordance between Malignant hyperthermia susceptibility and Rippling muscle disease
Uppsala University, Disciplinary Domain of Medicine and Pharmacy, Faculty of Medicine, Department of Neuroscience, Neurology.
Uppsala University, Disciplinary Domain of Medicine and Pharmacy, Faculty of Medicine, Department of Neuroscience, Neurology.
Department of Medicine, Visby Hospital.
Uppsala University, Disciplinary Domain of Medicine and Pharmacy, Faculty of Medicine, Department of Neuroscience, Neurology.
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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
Abstract [en]

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.

Purpose

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.

Results

There was no relation between RMD and MH susceptibility. There were no adverse anesthesia reactions recorded in this family.

Conclusions

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.
Keyword [en]
Caveolin 3, Malignant Hyperthermia, Rippling muscle disease, Calcium, Anesthesia
National Category
Anesthesiology and Intensive Care Neurology
Research subject
Anaesthesiology and Intensive Care; Neurology
Identifiers
URN: urn:nbn:se:uu:diva-162047DOI: 10.1007/s00540-012-1482-7ISI: 000315042200021PubMedID: 22976939OAI: oai:DiVA.org:uu-162047DiVA: diva2:458422
Available from: 2011-11-23 Created: 2011-11-23 Last updated: 2017-12-08Bibliographically approved
In thesis
1. Autosomal Dominant Leukodystrophy with Autonomic Symptoms and Rippling Muscle Disease: Translational Studies of Two Neurogenetic Diseases
Open this publication in new window or tab >>Autosomal Dominant Leukodystrophy with Autonomic Symptoms and Rippling Muscle Disease: Translational Studies of Two Neurogenetic Diseases
2011 (English)Doctoral thesis, comprehensive summary (Other academic)
Abstract [en]

There is a large variety of diseases caused by single-gene mutations. Although most of these conditions are rare, together they impose a significant burden to the population. This thesis describes clinical and genetic studies of two single-gene diseases:

1) Adult-onset autosomal dominant leukodystrophy with autonomic symptoms (ADLD) caused by LMNB1 gene duplications, and characterized by autonomic, pyramidal and cerebellar symptoms. Spinal cords of patients with ADLD were studied by MRI and found to be thin, with high signal intensity in white matter. Histopathology showed loss of myelinated fibres with some reactive gliosis. DNA samples from four different families with ADLD were obtained, and the LMNB1 gene was screened for duplications. Single nucleotide polymorphism array revealed LMNB1 duplications in all ADLD families. LMNB1 mRNA and protein levels were assessed in white blood cells using quantitative polymerase chain reaction and Western blot, and increased levels of LMNB1 mRNA and lamin B1 protein could be demonstrated. We concluded that spinal cord atrophy in patients with ADLD is a valuable differential diagnostic sign, and that increased levels of LMNB1 can be detected in peripheral blood.

2) Rippling muscle disease (RMD) is caused by CAV3 gene mutations. Clinical features are percussion-induced muscle mounding, –rapid contractions and undulating muscle contractions (rippling). The CAV3 gene was sequenced in 38 members of a family with RMD. Twenty-two individuals had clinical features of RMD. No muscle weakness was seen. All patients with signs of RMD carried the p.A46T CAV3 mutation, showing that the p.A46T mutation was benign and that the diagnosis can be made clinically. In vitro contracture test results from 10 of the subjects were collected, but no association between pathological test results and RMD was found.

Place, publisher, year, edition, pages
Uppsala: Acta Universitatis Upsaliensis, 2011. 76 p.
Series
Digital Comprehensive Summaries of Uppsala Dissertations from the Faculty of Medicine, ISSN 1651-6206 ; 726
Keyword
Inborn genetic diseases, Leukoencephalopathies, Lamin type B, Muscular disease, Caveolin 3
National Category
Neurology
Research subject
Neurology
Identifiers
urn:nbn:se:uu:diva-162048 (URN)978-91-554-8230-5 (ISBN)
Public defence
2012-01-13, Grönwallsalen, Akademiska sjukhuset, Ing 70, Uppsala, 09:15 (English)
Opponent
Supervisors
Available from: 2011-12-20 Created: 2011-11-23 Last updated: 2012-01-03Bibliographically approved

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Sundblom, JimmyMelberg, AtleSmits, Anja

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