The non-dystrophic myotonias: molecular pathogenesis, diagnosis and treatment.

Brain : a Journal of Neurology
E MatthewsCINCH Investigators

Abstract

The non-dystrophic myotonias are an important group of skeletal muscle channelopathies electrophysiologically characterized by altered membrane excitability. Many distinct clinical phenotypes are now recognized and range in severity from severe neonatal myotonia with respiratory compromise through to milder late-onset myotonic muscle stiffness. Specific genetic mutations in the major skeletal muscle voltage gated chloride channel gene and in the voltage gated sodium channel gene are causative in most patients. Recent work has allowed more precise correlations between the genotype and the electrophysiological and clinical phenotype. The majority of patients with myotonia have either a primary or secondary loss of membrane chloride conductance predicted to result in reduction of the resting membrane potential. Causative mutations in the sodium channel gene result in an abnormal gain of sodium channel function that may show marked temperature dependence. Despite significant advances in the clinical, genetic and molecular pathophysiological understanding of these disorders, which we review here, there are important unresolved issues we address: (i) recent work suggests that specialized clinical neurophysiology can identify channel ...Continue Reading

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Citations

Oct 4, 2012·JAMA : the Journal of the American Medical Association·Jeffrey M StatlandUNKNOWN Consortium for Clinical Investigation of Neurologic Channelopathies
Oct 12, 2012·European Journal of Clinical Pharmacology·Jean-François DesaphyDiana Conte Camerino
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