title: Myotonia congenita--a successful response to carbamazepine.
abstract: Myotonia congenita is a rare disease of skeletal muscle characterized by painless myotonia, generalized muscular hypertrophy and a non-progressive course. We report a 10-year-old girl with myotonia, "Herculean appearance" and electromyographic confirmation of myotonic discharges. There was a dramatic response to carbamazepine. The aim of this report is to make the readers aware of this entity which can be easily controlled with medication and also prevented by genetic counseling.
authors.affiliation: Department of Pediatrics, Government Medical College, Mysore, India. savvvy62002@yahoo.co.in
authors.forename: M R
authors.initials: MR
authors.lastname: Savitha
authors.forename: B
authors.initials: B
authors.lastname: Krishnamurthy
authors.forename: Abbas
authors.initials: A
authors.lastname: Hyderi
authors.lastname: Farhan-Ul-Haque
authors.forename: Nallur B
authors.initials: NB
authors.lastname: Ramachandra
mesh_terms: D002220:Carbamazepine / Q000627:therapeutic use*; D002648:Child; D005260:Female; D006801:Humans; D009224:Myotonia Congenita / Q000188:drug therapy*; D009465:Neuromuscular Agents / Q000627:therapeutic use*; D016896:Treatment Outcome
chemical_list: D009465:Neuromuscular Agents; D002220:Carbamazepine