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What the internist should know about hereditary muscle channelopathies

Authors :
Bissay, Véronique
Van Malderen, Sophie C. H.
Source :
Acta Clinica Belgica: International Journal of Clinical and Laboratory Medicine; January 2018, Vol. 73 Issue: 1 p1-6, 6p
Publication Year :
2018

Abstract

AbstractObjectives:Non-dystrophic myotonia, periodic paralysis and, to a certain extent, myotonic dystrophies are rare hereditary skeletal muscle channelopathies, charactarized by myotonia or episodic muscle weakness. This review highlights the diagnostic challenges and treatment options.Results: Some of these rare skeletal muscle disorders are associated with a broad range of systemic and nonspecific muscle symptoms. Consequently, patients are often referred to the internist before seeing a neurologist. This article provides clinical clues to better diagnose an tackle these unique disorders.Conclusion: A increased knowledge will reduce the diagnostic delay, improve monitoring and treatment, and might even prevent potentially life-threatening conditions as seen in DM.

Details

Language :
English
ISSN :
17843286 and 22953337
Volume :
73
Issue :
1
Database :
Supplemental Index
Journal :
Acta Clinica Belgica: International Journal of Clinical and Laboratory Medicine
Publication Type :
Periodical
Accession number :
ejs44635201
Full Text :
https://doi.org/10.1080/17843286.2017.1396674