Congenital myotonia

PubMed, the Internet portal of biomedical and life sciences literature, indexed an interesting article, entitled “Myotonia congenital – a successful response to carbamazepine” (Indian J Pediatr. 2006 May;73(5):431-3 ). Authors are Savitha MR, Krishnamurthy B, Hyderi A et al, from the Department of Pediatrics, Government Medical College, Mysore, India. Myotonia congenita is a rare disease of skeletal muscle characterized by painless myotonia, generalized muscular hypertrophy and a non-progressive course. The authors 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. To access the abstract of the article, click here.