title: [Ion-channel related muscular diseases].
abstract: BACKGROUND
  Though ion channel-related muscular disorders were described long ago, better understanding of their underlying mechanisms has been more recently achieved. These mechanisms include myotonic syndromes that may be caused by mutations in sodium and chloride channels, as well as periodic paralysis which is due to mutations in sodium and calcium channels.
  
  
  BACKGROUND
  Knowledge of the involved pathophysiological mechanisms has led to better clinical description of these disorders, as well as more efficacious treatment. In some cases, it is now possible to establish the diagnosis, using genetic tests.
  
  
  CONCLUSIONS
  Other neuromuscular disorders might be related to ion channel mutations.
authors.affiliation: Fédération de neurologie et Inserm CJF9711, hôpital de la Pitié-Salpêtrière, Paris, France.
authors.forename: B
authors.initials: B
authors.lastname: Fontaine
mesh_terms: D000086:Acetazolamide / Q000627:therapeutic use; D000889:Anti-Arrhythmia Agents / Q000627:therapeutic use; D000927:Anticonvulsants / Q000627:therapeutic use; D002220:Carbamazepine / Q000627:therapeutic use; D006801:Humans; D020514:Hypokalemic Periodic Paralysis / Q000188:drug therapy / Q000235:genetics / Q000378:metabolism; D007473:Ion Channels / Q000378:metabolism; D008801:Mexiletine / Q000627:therapeutic use; D009154:Mutation; D009222:Myotonia / Q000188:drug therapy / Q000235:genetics / Q000378:metabolism; D020513:Paralysis, Hyperkalemic Periodic / Q000188:drug therapy / Q000235:genetics / Q000378:metabolism; D010672:Phenytoin / Q000627:therapeutic use; D011189:Potassium Chloride / Q000627:therapeutic use
chemical_list: D000889:Anti-Arrhythmia Agents; D000927:Anticonvulsants; D007473:Ion Channels; D008801:Mexiletine; D002220:Carbamazepine; D010672:Phenytoin; D011189:Potassium Chloride; D000086:Acetazolamide