title: Therapy in myotonic disorders and in muscle channelopathies.
abstract: Myotonia and muscle weakness are cardinal features of myotonic disorders including the myotonic dystrophies and the non-dystrophic myotonias. Despite the recent progress in molecular genetics of these myotonic disorders, the precise mechanisms responsible for myotonia and for permanent or episodic muscle weakness are still unclear. Treatment has been mostly symptomatic, independent of the disease process involved. Moreover, there have been few randomized controlled trials of treatment for myotonic disorders and consequently no standardized treatment regimens are available. We present a review of selected treatment trials in the myotonic disorders and in muscle channelopathies, and discuss, on the basis of our experience in the myotonic disorders, the limits and advantages of treatment trials in this field. Future genotype-phenotype correlations using the patch-clamp technique are also illustrated.
authors.affiliation: Department of Neurology, University of Milan, Istituto Policlinico San Donato, San Donato Milanese (MI), Italy.
authors.forename: G
authors.initials: G
authors.lastname: Meola
authors.forename: V
authors.initials: V
authors.lastname: Sansone
mesh_terms: D015220:Calcium Channels / Q000187:drug effects / Q000235:genetics / Q000378:metabolism; D018118:Chloride Channels / Q000187:drug effects / Q000235:genetics / Q000378:metabolism; D006801:Humans; D007473:Ion Channels / Q000187:drug effects / Q000378:metabolism*; D018482:Muscle, Skeletal / Q000187:drug effects / Q000378:metabolism* / Q000503:physiopathology; D020967:Myotonic Disorders / Q000188:drug therapy* / Q000378:metabolism / Q000503:physiopathology; D009223:Myotonic Dystrophy / Q000628:therapy; D020513:Paralysis, Hyperkalemic Periodic / Q000378:metabolism / Q000503:physiopathology / Q000628:therapy; D015222:Sodium Channels / Q000187:drug effects / Q000235:genetics / Q000378:metabolism
chemical_list: D015220:Calcium Channels; D018118:Chloride Channels; D007473:Ion Channels; D015222:Sodium Channels