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Myotonia Congenita and Myotonic Dystrophy: Surveillance and Management

  • Neuromuscular Disorders
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Opinion statement

Myotonia can be treated both pharmacologically and by lifestyle modifications. Cell membrane stabilizers are the medications most commonly used for symptomatic treatment of myotonia. Most patients do not require treatment for the myotonia itself, unless it is severe, but physicians must be aware of anesthesia risks in both myotonia congenita and myotonic dystrophy. A mainstay of management of myotonic dystrophy is the surveillance and treatment of its various systemic complications.

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References and Recommended Reading

Papers of particular importance, recently published, have been highlighted as: • Of importance •• Of major importance

  1. Preston DC, Shapiro BE: Electromyography and Neuromuscular Disorders, edn 2. Philadelphia: Elsevier Health Sciences; 2005.

    Google Scholar 

  2. Lehmann-Horn F, Jurkat-Rott K, Rudel R: Diagnostics and therapy of muscle channelopathies—guidelines of the Ulm Muscle Center. Acta Myologica 2008, 27:98–113.

    CAS  PubMed  Google Scholar 

  3. Heatwole CR, Moxley R 3rd: The nondystrophic myotonias. Neurotherapeutics 2007, 4(2):238–251.

    Article  CAS  PubMed  Google Scholar 

  4. Lossin C, George AL Jr: Myotonia congenita. Adv Genet 2008, 63:25–55.

    Article  CAS  PubMed  Google Scholar 

  5. Bandschapp O, Ginz HF, Soule CL, et al.: In vitro effects of propofol and volatile agents on pharmacologically induced chloride channel myotonia. Anesthesiology 2009, 111:584–590.

    Article  CAS  PubMed  Google Scholar 

  6. Harper PS: Myotonic Dystrophy, edn 3. London: WB Saunders; 2001.

    Google Scholar 

  7. Udd B, Meola G, Krahe R, et al.: 140th ENMC International Workshop: Myotonic Dystrophy DM2/PROMM and other myotonic dystrophies with guidelines on management. Neuromuscul Disord 2006, 16(6):403–413.

    Article  CAS  PubMed  Google Scholar 

  8. Katirji B, Kamininski H, Preston D, et al.: Neuromuscular Disorders in Clinical Practice. Boston: Butterworth-Heinemann; 2002.

    Google Scholar 

  9. Kwiecinski H, Ryniewicz B, Ostrzycki A: Treatment of myotonia with antiarrhythmic drugs. Acta Neurol Scand 1992, 86(4):371–375.

    Article  CAS  PubMed  Google Scholar 

  10. Kratz R, Hawley RJ, Jackson LK, et al.: Treatment of myotonia with mexiletine. Muscle Nerve 1986, 9(suppl 5):199.

    Google Scholar 

  11. Meola G, Sansone V: Treatment in myotonia and periodic paralysis. Rev Neurol (Paris) 2004, 180(5 pt 2):4S55–4S69.

    Google Scholar 

  12. Trip J, Drost GG, van Engelen B, Faber CG: Drug treatment for myotonia. Cochrane Database Syst Rev 2006, 1:CD004762.

    PubMed  Google Scholar 

  13. Monolis AS, Dearing TF, Cameron J, et al.: Mexiletine: pharmacology and therapeutic uses. Clin Cardiol 1990, 13(5):349–359.

    Article  Google Scholar 

  14. Campbell RW: Mexiletine. N Engl J Med 1987, 316:29–34.

    Article  CAS  PubMed  Google Scholar 

  15. Catalono AS, Corocci A, Filomena C, et al.: Constrained analogs of tocainide as potent skeletal muscle sodium blockers towards the development of antimyotonic agents. Eur J Med Chem 2008, 43(11):2535–2540.

    Article  CAS  Google Scholar 

  16. Rudel R, Dengler R, Ricker K: Improved therapy of myotonia with the lidocaine derivative tocainide. J Neurol 1980, 244(4):275–278.

    Article  Google Scholar 

  17. Savitha MR, Krishnamurthy B, Hyderi A, et al.: Myotonia congenita—a successful response to carbamazepine. Ind J Pediat 2006, 73:57–59.

    Google Scholar 

  18. Sechi GP, Traccis S, Durelli L, et al.: Carbamazepine versus diphenylhydantoin in the treatment of myotonia. Eur Neurol 1983, 22(2):113–118.

    Article  CAS  PubMed  Google Scholar 

  19. Aichele R, Palik H, Heller AH: Efficacy of phenytoin, procainamide, and tocainide in murine genetic myotonia. Exp Neurol 1985, 87(2):377–381.

    Article  CAS  PubMed  Google Scholar 

  20. Gerst JW, Brumback RA, Staton RD: Lithium-induced improvement of myotonia. J Neurol Neurosurg Psychiatry 1984, 47(9):1044–1046.

    Article  CAS  PubMed  Google Scholar 

  21. Hughes EF, Wilson J: Response to treatment with antihistamines in a family with myotonia congenita. Lancet 1991, 337:28–30.

    Article  CAS  PubMed  Google Scholar 

  22. Allford MA: Prolonged myotonia and dystonia after general anaesthesia in a patient taking gabapentin. Br J Anaesth 2007, 99(2):218–220.

    Article  CAS  PubMed  Google Scholar 

  23. Heiman-Patterson T, Martino C, Rosenburg H, et al.: Malignant hyperthermia in myotonia congenita. Neurology 1988, 38:810–812.

    CAS  Google Scholar 

  24. Farbo E, Softeland E, Bindoff A: Anesthetic complications associated with myotonia congenita: a case study and comparison with other myotonic disorders. Acta Anesthesiol Scand 2005, 47:630–634.

    Article  Google Scholar 

  25. Russel SH, Hirsch NP: Anaesthesia and myotonia. Br J Anaesth 1994, 72:210–216.

    Article  Google Scholar 

  26. Sugino M, Ohsawa N, Ito T, et al.: A pilot study of dehydroepiandrosterone sulfate in myotonic dystrophy. Neurology 1998, 51:586–589.

    CAS  PubMed  Google Scholar 

  27. Pénisson-Besnier I, Devillers M, Porcher R, et al.: Dehydroepiandrosterone for myotonic dystrophy type 1. Neurology 2008, 71:407–412.

    Article  PubMed  CAS  Google Scholar 

  28. Örndahl G, Grimby G, Grimby A, et al.: Functional deterioration and selenium-vitamin E treatment in myotonic dystrophy. A placebo-controlled study. J Intern Med 1994, 235(3):205–210.

    Article  PubMed  Google Scholar 

  29. Walter M, Reilich P, Lochmüller H: Creatine monohydrate in myotonic dystrophy: a double-blind, placebo-controlled clinical study. J Neurol 2002, 249:1717–1722.

    Article  CAS  PubMed  Google Scholar 

  30. Tarnopolsky M, Mahoney D, Thompson T, et al.: Creatine monohydrate supplementation does not increase muscle strength, lean body mass, or muscle phosphocreatine in patients with myotonic dystrophy type 1. Muscle Nerve 2004, 29:51–58.

    Article  CAS  PubMed  Google Scholar 

  31. Gascon G, Staton RD, Patterson B, et al.: A pilot controlled study of the use of imipramine to reduce myotonia. Am J Phys Med Rehabil 1989, 68(5):215–220.

    Article  CAS  PubMed  Google Scholar 

  32. Antonini G, Vichi R, Leardi MG: Effect of clomipramine on myotonia: a placebo-controlled, double-blind, crossover trial. Neurology 1990, 40(9):1473–1474.

    CAS  PubMed  Google Scholar 

  33. Bassez G, Lazarus A, Desguerre I: Severe cardiac arrhythmias in young patients with myotonic dystrophy type 1. Neurology 2004, 63(10):1939–1941.

    CAS  PubMed  Google Scholar 

  34. Fayssoil A: Should we perform systematic electrophysiological study in Steinert’s disease? J Cardiothorac Surg 2008, 3:56.

    Article  PubMed  Google Scholar 

  35. Mathieu J, Allard P, Potvin L, et al.: A 10-year study of mortality in a cohort of patients with myotonic dystrophy. Neurology 1999, 52:1658.

    CAS  PubMed  Google Scholar 

  36. Lazarus A, Varin J, Ounnoughene Z, et al.: Relationships among electrophysiological findings and clinical status, heart function, and extent of DNA mutation in myotonic dystrophy. Circulation 1999, 99:1041–1046.

    CAS  PubMed  Google Scholar 

  37. Groh WJ, Groh MR, Saha C, et al.: Electrocardiographic abnormalities and sudden death in myotonic dystrophy type 1. N Engl J Med 2008, 358(25):2688–2697.

    Article  CAS  PubMed  Google Scholar 

  38. Dello Russo A, Mangiola F, Della Bella P, et al.: Risk of arrhythmias in myotonic dystrophy: trial design of the RAMYD study. J Cardiovasc Med (Hagerstown) 2009, 10(1):51–58.

    Google Scholar 

  39. Groh WJ, Lowe MR, Zipes DP: Severity of cardiac conduction involvement and arrhythmias in myotonic dystrophy type 1 correlates with age and CTG repeat length. J Cardiovasc Electrophysiol 2002, 13:444–448.

    Article  PubMed  Google Scholar 

  40. Nitz J, Burke B: A study of the facilitation of respiration in myotonic dystrophy. Physiother Res Int 2002, 7(4):228–238.

    Article  PubMed  Google Scholar 

  41. MacDonald JR, Hill JD, Tarnopolsky MA: Modafinil reduces excessive somnolence and enhances mood in patients with myotonic dystrophy. Neurology 2002, 59:1876–1880.

    CAS  PubMed  Google Scholar 

  42. Ciafaloni E, Mignot E, Sansone V: The hypocretin neurotransmission system in myotonic dystrophy type 1. Neurology 2008, 70:226–230.

    Article  CAS  PubMed  Google Scholar 

  43. Talbot K, Stradling J, Crosby J, et al.: Reduction in excess daytime sleepiness by modafinil in patients with myotonic dystrophy. Neuromuscul Disord 2003, 13:357–364.

    Article  CAS  PubMed  Google Scholar 

  44. Orlikowski D, Chevret S, Quera-Salva MA, et al.: Modafinil for the treatment of hypersomnia associated with myotonic muscular dystrophy in adults: a multicenter, prospective, randomized, double-blind, placebo-controlled, 4-week trial. Clin Therapeut 2009, 31(8):1765–1773.

    Article  CAS  Google Scholar 

  45. Wintzen AR, Lammers GJ, van Dijk JG: Does modafinil enhance activity of patients with myotonic dystrophy? A double-blind placebo-controlled crossover study. J Neurol 2007, 254:26–28.

    Article  CAS  PubMed  Google Scholar 

  46. Meola G, Sansone V, Perani D, et al.: Executive dysfunction and avoidant personality trait in myotonic dystrophy type 1 (DM-1) and in proximal myotonic myopathy (PROMM/DM-2). Neuromuscul Disord 2003, 13(10):813–821.

    Article  CAS  PubMed  Google Scholar 

  47. Mathieu J, Allard P, Gobeil G, et al.: Anesthetic and surgical complications in 219 cases of myotonic dystrophy. Neurology 1997, 49:1646–1650.

    CAS  PubMed  Google Scholar 

  48. Orngreen MC, Olsen DB, Vissing J: Aerobic training in patients with myotonic dystrophy type 1. Ann Neurol 2005, 57(5):754–757.

    Article  PubMed  Google Scholar 

  49. Sackley C, Disler PB, Turner-Stokes L, et al.: Rehabilitation interventions for foot drop in neuromuscular disease. Cochrane Database Syst Rev 2009, 3:CD003908.

  50. Wheeler TM: Myotonic dystrophy: therapeutic strategies for the future. Neurotherapeutics 2008, 5(4):592–600.

    Article  PubMed  Google Scholar 

  51. Aartsma-Rus A, van Ommen GJ: Progress in therapeutic antisense applications for neuromuscular disorders. Eur J Hum Genet 2009 Oct 7 (Epub ahead of print).

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Correspondence to Allison Conravey MD.

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Conravey, A., Santana-Gould, L. Myotonia Congenita and Myotonic Dystrophy: Surveillance and Management. Curr Treat Options Neurol 12, 16–28 (2010). https://doi.org/10.1007/s11940-009-0055-z

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