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Skeletal muscle channelopathies: a guide to diagnosis and management

Matthews, E; Holmes, S; Fialho, D; (2021) Skeletal muscle channelopathies: a guide to diagnosis and management. Practical Neurology 10.1136/practneurol-2020-002576. (In press). Green open access

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Abstract

Skeletal muscle channelopathies are a group of rare episodic genetic disorders comprising the periodic paralyses and the non-dystrophic myotonias. They may cause significant morbidity, limit vocational opportunities, be socially embarrassing, and sometimes are associated with sudden cardiac death. The diagnosis is often hampered by symptoms that patients may find difficult to describe, a normal examination in the absence of symptoms, and the need to interpret numerous tests that may be normal or abnormal. However, the symptoms respond very well to holistic management and pharmacological treatment, with great benefit to quality of life. Here, we review when to suspect a muscle channelopathy, how to investigate a possible case and the options for therapy once a diagnosis is made.

Type: Article
Title: Skeletal muscle channelopathies: a guide to diagnosis and management
Location: England
Open access status: An open access version is available from UCL Discovery
DOI: 10.1136/practneurol-2020-002576
Publisher version: http://dx.doi.org/10.1136/practneurol-2020-002576
Language: English
Additional information: This version is the author accepted manuscript. For information on re-use, please refer to the publisher’s terms and conditions.
Keywords: EMG, cardiology, channels, clinical neurology, muscle disease
UCL classification: UCL
UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences
UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences > Faculty of Brain Sciences
UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences > Faculty of Brain Sciences > UCL Queen Square Institute of Neurology
UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences > Faculty of Brain Sciences > UCL Queen Square Institute of Neurology > Department of Neuromuscular Diseases
URI: https://discovery.ucl.ac.uk/id/eprint/10122216
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