Nondystrophic myotonia: Challenges and future directions

Jaya R. Trivedi, Stephen C. Cannon, Robert C. Griggs

Research output: Contribution to journalComment/debatepeer-review

23 Scopus citations

Abstract

Non-dystrophic myotonias are rare diseases caused by mutations in skeletal muscle chloride and sodium ion channels with considerable phenotypic overlap between diseases. Common symptoms include muscle stiffness, transitory weakness, fatigue, and pain. Although seldom life-shortening, these myotonias cause life-time disability and affected individuals cannot perform many daily activities. A notable feature of the recessive form of chloride channelopathies is the presence of transient weakness. While there has been considerable progress in skeletal muscle channelopathies with regards to identifying biophysical abnormalities, the mechanism of transient weakness remains unclear. A recent study published in Experimental Neurology (Desaphy et al., 2013) explored this question further by comparing the biophysical properties of 3 chloride channel mutations associated with recessive myotonia congenita, with varying susceptibility to transient weakness. The authors identified a variety of functional defects in channel behavior among the 3 mutations, suggesting that this variability contributes to the differing phenotypes among chloride channelopathies. This commentary discusses nondystrophic myotonias, the results of Desaphy et al., and the treatment challenges in this rare disease.

Original languageEnglish (US)
Pages (from-to)28-30
Number of pages3
JournalExperimental Neurology
Volume253
DOIs
StatePublished - Mar 2014

Keywords

  • CLCN1
  • Myotonia
  • Non-dystrophic myotonia
  • Paramyotonia
  • SCN4A

ASJC Scopus subject areas

  • Neurology
  • Developmental Neuroscience

Fingerprint Dive into the research topics of 'Nondystrophic myotonia: Challenges and future directions'. Together they form a unique fingerprint.

Cite this