A mechanical engineer cannot open his fist - myotonia congenita

Authors

  • Bhavana Nagabhushana Rao Department of General Medicine, NRI Hospital, Seethammadhara, Visakhapatnam, Andhra Pradesh
  • Raman Bhavana Department of General Surgery, NRI Hospital, Seethammadhara, Visakhapatnam, Andhra Pradesh

DOI:

https://doi.org/10.18203/2320-6012.ijrms20150846

Keywords:

Difficulty in opening fist, Myotonia Congenita, EEG, Carbamazepine

Abstract

Myotonia congenita is a rare congenital neurological disorder, not encountered by many physicians in their clinical practice. Two types are described Thomsen and Becker. The former autosomal dominant, presents at early age and less aggressive as in our patient. Backer is autosomal recessive more aggressive and with muscle weakness. In these disorders group of skeletal muscles contract longer and slow to relax due to mutation in CLCN1 gene leading to chloride channelopathy. They present with difficulty to initiate an action but can do it normally after repeated attempts. Hand and facial muscles are involved in Thomsen disease; they are not weak or atrophic but might have cramps. Diagnosis of Myotonia congenita is clinical and confirmed by electromyography. Many other clinical conditions have myotonia, dystrophic and non-dystrophic. Physiotherapy and membrane stabilizing drugs like anti-epileptics are of choice but with varying success. Genetic counseling is an important part of management of these cases.

References

htts://rarediseases.org>rare-diseases>myotonia congenita.

CY, Chen TY. Physiology and pathophysiology of CLC-1: mechanisms of a chloride channel disease, myotonia. J Biomed Biotechnol. 2011;2011:685328.

Heatwole CR, Moxley RT. The nondystrophic myotonias. Neurotherapeutics. 2007;4(2):238-51.

Trip J, Drost G, van Engelen BG, Faber CG. Drug treatment for myotonia. Cochrane Database Syst Rev. 2006;(1):CD004762.

Farbu E, Softeland E, BIndoff LA. Anaeshetic complications associated with myotonia congenita: case study and comparison with other myotonic disorder. Acta Anaesthesiology Scandinavica. 2003;47(5):630-4.

Savitha MR, Krishnamurthy B, Hyderi A, Farhan-Ul-Haque, Ramachandra NB. Myotonia congenita--a successful response to carbamazepine. Indian J Pediatr. 2006;73(5):431-3.

Suetterlin K, Männikkà R, Hanna MG. Muscle channelopathies: recent advances in genetics, pathophysiology and therapy. Curr Opin Neurol. 2014;27(5):583-90.

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Published

2017-01-14

How to Cite

Rao, B. N., & Bhavana, R. (2017). A mechanical engineer cannot open his fist - myotonia congenita. International Journal of Research in Medical Sciences, 3(10), 2874–2876. https://doi.org/10.18203/2320-6012.ijrms20150846

Issue

Section

Case Reports