The Indian Journal of Pediatrics

, Volume 73, Issue 5, pp 431–433 | Cite as

Myotonia congenita — A successful response to carbamazepine

  • M. R. Savitha
  • B. Krishnamurthy
  • Abbas Hyderi
  • Farhan-Ul-Haque
  • Nallur B. Ramachandra
Clinical Brief


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.

Key Words

Myotonia Myotonia congenita Carbamazepine 


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  1. 1.
    Brett EM, Lake BD. Neuromuscular disorders: I Primary muscle disease and anterior horn cell disorders. In:Pediatric Neurology, 3rd edn. eds Brett EM. Churchill Livingstone, New York 1997:pp 70–77.Google Scholar
  2. 2.
    Victor M, Ropper AH: The Hereditary myotonias and periodic paralyses (The Channelopathies). InAdams and Victor’s Principles of Neurology, 7th edition. eds Victor M, Ropper AH. McGraw Hill (Medical publishing division) USA, 2001; pp 1553–1564.Google Scholar
  3. 3.
    Chew KTL, Wong YS, Teoh HL, Lim ECH. Myotonia congenita in a young active man-symptoms and physique tip the diagnosis.The Physician and Sports Medicine 2004: vol 32 (7): 26–29Google Scholar
  4. 4.
    Sarnat HB. Neuromuscular disorders. InNelson Textbook of Pediatrics, 17th edition. Eds Behrman RE, Kligeman RM, Jenson HB. Saunders, Philadelphia 2004; pp 2066.Google Scholar
  5. 5.
    Sheela S.R. Myotonia Congenita: Response to Carbamazepine.Indian Pediatrics 2000; 37: 1122–1125.PubMedGoogle Scholar
  6. 6.
    Bhattacharya KB, Sengupta P, Basu S, Bhattacharya NP. Becker’s variant of myotonia congenita in two siblings-A clinicogenetic study.Neurology India 2004: 52(3) 363–364PubMedGoogle Scholar
  7. 7.
    Menkes JH. Diseases of the motor unit. InTextbook of Child Neurology.5th edition. eds Menkes JH. Williams and Winkins USA, 1995, pp 836–841Google Scholar
  8. 8.
    Crews J, Kaiser KK, Brooke MH. Muscle Pathology of Myotonia congenita.J Neurol Sci. 1976. Aug; 28(4): 449–457.PubMedCrossRefGoogle Scholar
  9. 9.
    Moxley III RT, Tawil, Thornton CA. Channelopathies: Myotonic disorders and periodic paralysis. InPediatric Neurology. Principles and Practice. 3rd edition. Eds Swaiman KF, Ashwal S. Mosbs, Missouri. 1999. pp 1299–1310Google Scholar
  10. 10.
    Sechi GP, Traccis S, Durelli L, Monaco F, Mutan R. Carbamazepine versus diphenylhydantoin in the treatment of Myotonia.Eur Neurol 1983; 22: 113–118.PubMedGoogle Scholar
  11. 11.
    Streib EW. Successful treatment with Tocainide of recessive generalized congenital myotonia.Annals of Neurol May 1986; 19: 501–504.CrossRefGoogle Scholar
  12. 12.
    Kwiecinski H, Ryniewicz B, Ostrzycki A. Treatment of myotonia with antiarrhythmic drugs.Acta Neurol Scand 1992; 86: 371–375.PubMedCrossRefGoogle Scholar
  13. 13.
    Munsat TL. Therapy of myotonia.Neurology 1967; 17: 359–366.PubMedGoogle Scholar
  14. 14.
    Leyburn P, Walton JN. The treatment of myotonia: A controlled clinical trial.Brain 1959; 81–91.Google Scholar
  15. 15.
    Durelli L, Multani R, Piredda S, Fassio F, Delsedime M. The quantification of myotonia—A problem in the evaluation of new anti myotonic drugs.J Neurological Sciences 1983; 59: 167–173.CrossRefGoogle Scholar

Copyright information

© Dr.K C Chaudhuri Foundation 2006

Authors and Affiliations

  • M. R. Savitha
    • 1
  • B. Krishnamurthy
    • 1
  • Abbas Hyderi
    • 1
  • Farhan-Ul-Haque
    • 1
  • Nallur B. Ramachandra
    • 2
  1. 1.Department of PediatricsGovernment Medical CollegeMysore
  2. 2.Department of Studies in ZoologyUniversity of MysoreMysoreIndia

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