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Skeletal muscle channelopathies 

Skeletal muscle channelopathies
Chapter:
Skeletal muscle channelopathies
Author(s):

Emma Matthews

and Michael G. Hanna

DOI:
10.1093/med/9780199698073.003.0031
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date: 20 July 2019

This chapter considers the skeletal muscle channelopathies which encompass a group of rare inherited neuromuscular disorders. They derive their name from the fact each is due to dysfunction of an ion channel present in the sarcolemma of skeletal muscle. These ion channels regulate the electrical excitability of the muscle membrane such that, in health, muscle contraction and relaxation occurs in a controlled and timely manner in response to appropriate stimulation. The skeletal muscle channelopathies can be considered in two broad groups. In the first the predominant problem is an inexcitable muscle membrane that manifests clinically as episodes of severe muscle weakness or paralysis;these are known as the periodic paralyses. In the second, the muscle membrane is hyperexcitable, observed clinically as myotonia (delayed muscle relaxation after contraction);these are known as the non-dystrophic myotonias.

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