Diagnosis and new treatment in muscle channelopathies

G. Meola, M. G. Hanna, B. Fontaine

Research output: Contribution to journalArticlepeer-review

Abstract

The skeletal muscle fibre membrane plays a major role in muscle contraction by generating and propagating action potentials, and linking the latter to the release of intracellular calcium stores which triggers mechanical contraction. This function relies on the proper functioning of ion channels. In the last two decades, diseases caused by mutations in muscle ion channel genes have been identified, the so-called muscle channelopathies. Even though the pathophysiology of muscle channelopathies is not completely elucidated, major advances have been made in their understanding, thus linking patient symptoms and neurophysiology with abnormal functioning of the muscle membrane. This has facilitated significant progress both in the diagnosis of these disorders and in the rationale for therapeutic intervention. In this review, we will focus on diagnosis and treatments of muscle channelopathies of relevance to the clinical neurologist.

Original languageEnglish
Pages (from-to)360-365
Number of pages6
JournalJournal of Neurology, Neurosurgery and Psychiatry
Volume80
Issue number4
DOIs
Publication statusPublished - Apr 2009

ASJC Scopus subject areas

  • Clinical Neurology
  • Psychiatry and Mental health
  • Surgery
  • Arts and Humanities (miscellaneous)
  • Medicine(all)

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