Savitha, M. R. ; Krishnamurthy, B. ; Hyderi, Abbas ; Farhan-Ul-Haque, . ; Ramachandra, Nallur B. (2006) Myotonia congenita — a successful response to carbamazepine The Indian Journal of Pediatrics, 73 (5). pp. 431-433. ISSN 0019-5456
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Official URL: https://link.springer.com/article/10.1007/BF027585...
Related URL: http://dx.doi.org/10.1007/BF02758569
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.
Item Type: | Article |
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Source: | Copyright of this article belongs to Springer Verlag. |
Keywords: | Myotonia; Myotonia Congenita; Carbamazepine |
ID Code: | 111037 |
Deposited On: | 31 Jan 2018 11:38 |
Last Modified: | 31 Jan 2018 11:38 |
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