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Skeletal muscle channelopathies: a guide to diagnosis and management
  1. Emma Matthews1,2,
  2. Sarah Holmes3,
  3. Doreen Fialho2,3,4
  1. 1Atkinson-Morley Neuromuscular Centre, St George's University Hospitals NHS Foundation Trust, London, UK
  2. 2Department of Neuromuscular Diseases, UCL, Institute of Neurology, London, UK
  3. 3Queen Square Centre for Neuromuscular Diseases, National Hospital for Neurology and Neurosurgery, London, UK
  4. 4Department of Clinical Neurophysiology, King's College Hospital NHS Foundation Trust, London, UK
  1. Correspondence to Dr Emma Matthews, Atkinson-Morley Neuromuscular Centre, St George's University Hospitals NHS Foundation Trust, London, London, UK; e.matthews{at}sgul.ac.uk

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.

  • cardiology
  • channels
  • clinical neurology
  • EMG
  • muscle disease

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Footnotes

  • Twitter @EmmaM_Channels

  • Contributors All authors contributed to drafting and editing the manuscript.

  • Funding The authors have not declared a specific grant for this research from any funding agency in the public, commercial or not-for-profit sectors.

  • Competing interests None declared.

  • Patient consent for publication Not required.

  • Provenance and peer review Commissioned: externally reviewed by Jon Walters, Swansea, UK.

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