What the internist should know about hereditary muscle channelopathies

Véronique Bissay, Sophie C H Van Malderen

Onderzoeksoutput: Scientific review

Samenvatting

© Acta Clinica Belgica 2017 Objectives: 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.
Originele taal-2English
Pagina's (van-tot)1-6
Aantal pagina's6
TijdschriftActa Clinica Belgica
Volume73
Nummer van het tijdschrift1
Vroegere onlinedatum2017
DOI's
StatusPublished - 2 jan 2018

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