title: Myotonia congenita--a cause of muscle weakness and stiffness.
abstract: BACKGROUND
  A 56-year-old woman was referred to a neurogenetic clinic with a history of stiffness and transient weakness. A previous needle electromyogram had confirmed the presence of myotonia, but a muscle biopsy had revealed no evidence of dystrophy.
  
  
  METHODS
  Neurological examination, electrophysiological studies and genetic testing.
  
  
  METHODS
  Recessive myotonia congenita (Becker's disease).
  
  
  RESULTS
  Explanation of the nature of the disease and treatment with mexiletine 200 mg twice daily.
authors.affiliation: University of Laval, QC, Canada.
authors.forename: Nicolas
authors.initials: N
authors.lastname: Chrestian
authors.forename: Jack
authors.initials: J
authors.lastname: Puymirat
authors.forename: Jean-Pierre
authors.initials: JP
authors.lastname: Bouchard
authors.forename: Nicolas
authors.initials: N
authors.lastname: Dupré
mesh_terms: D003937:Diagnosis, Differential; D004576:Electromyography; D005260:Female; D005808:Genes, Recessive; D006801:Humans; D008801:Mexiletine / Q000627:therapeutic use; D008875:Middle Aged; D018908:Muscle Weakness / Q000209:etiology* / Q000503:physiopathology*; D018482:Muscle, Skeletal / Q000473:pathology / Q000503:physiopathology*; D009224:Myotonia Congenita / Q000150:complications* / Q000235:genetics / Q000503:physiopathology*; D009460:Neurologic Examination
chemical_list: D008801:Mexiletine