Clinical and electromyographic criteria for the diagnosis of hereditary myotonic syndromes

Hereditary myotonic syndromes (HMS) are a group of genetically heterogeneous diseases of the chlorine and sodium ion channels (channelopathies) with evident clinical polymorphism and high prevalence in the population. The differential diagnosis of early‑stage NMS poses a challenge to clinicians to this day. The investigation has attempted to elaborate informative differentiating criteria on the basis of a clinical and electromyographic study of 2 groups of patients with hereditary Thomsen or Becker myotonia (n = 45) and myotonic dystrophy type 1 (n = 39) verified by DNA analysis of the CLCN1 and DMPK genes. Along with the clinical symptoms, there may be the value of M‑response amplitude decrement in rhythmic stimulation of the n. ulnaris and the duration of myotonic discharges at pin electromyography of the m. tibialis anterior.

1. Emery A.E. Population frequencies of inherited neuromuscular diseases — a world survey. Neuromuscul Disord 1991;1:19–29.

2. Sun C., Tranebjaerg L., Torbergsen T. et al. Spectrum of CLCN‑1 mutations in patients with myotonia congenita in Northern Scandinavia. Eur J Hum Genet 2001;9:903–9.

3. Гехт Б.М., Ильина Н.А. Нервно-мышечные болезни. М.: Медицина, 1982. 352 с.

4. Иллариошкин С.Н. Миотонические синдромы. Обзор. Неврол журн 1998; 6:42−51.

5. Касаткина Л.Ф., Гильванова О.В., Сиднев Д.В. Клинико-электромиографический анализ больных с врожденной миотонией Томсена и дистрофической миотонией 1 типа. Клин неврол 2008; 3:15−9.

6. Лобзин В.С., Сайкова Л.А., Шиман А.Г. Нервно-мышечные болезни. СПб.: Гиппократ, 1998. С. 138−44.

7. Шнайдер Н.А., Шпраха В.В., Никулина С.Ю. Миотония. Руководство для врачей. М.: НМФ МБН, 2005. 245 с.

8. Chrestian N., Puymirat J., Bouchard J.‑P., Dupré N. Myotonia congenital — a cause of muscle weakness and stiffness. Nat Clin Pract Neurol 2006;2:393−9.

9. Colding‑Jorgensen E. Phenotypic variability in myotonia congenita. Muscle Nerve 2005;32:19–34.

10. Matthews E., Fialho D., Tan S.V. et al. The non-dystrophic myotonias: molecular pathogenesis, diagnosis and treatment. Brain 2010;133:9−22.

11. Grunnet M., Jespersen T., Colding‑Jørgensen E. et al. Characterization of two new dominant clc‑1 channel mutations associated with myotonia. Muscle Nerve 2003;28:722–32.

12. Papponen H., Toppinen T., Baumann P. et al. Founder mutations and the high prevalence of myotonia congenita in northern Finland. Neurology 1999;53:297–302.

13. Plassart‑Schiess E., Gervais A., Eymard B. et al. Novel muscle chloride channel (CLCN1) mutations in myotonia congenita with various modes of inheritance including incomplete dominance and penetrance. Neurology 1998;50:1176–9.

14. Pusch M. Myotonia caused by mutations in the muscle chloride channel gene CLCN1. Hum Mutat 2002;19:423–34.

15. Sloan‑Brown K., George A.L. Jr. Inheritance of three distinct muscle chloride channel gene (CLCN1) mutations in a single recessive myotonia congenita family. Neurology 1997;48:542–3.

16. Steinmeyer K., Lorenz C., Pusch M., Koch M.C., Jentsch T.J. Multimeric structure of ClC‑1 chloride channel revealed by mutations in dominant myotonia congenita (Thomsen). EMBO 1994;13:737–43.

17. Wu F.F., Ryan A., Devaney J. et al. Novel CLCN1 mutations with unique clinical and electrophysiological consequences. Brain 2002;125:2392–407.

18. Zhang J., George A.L. Jr., Griggs R.C. et al. Mutations in the human skeletal muscle chloride channel gene (CLCN1) associated with dominant and recessive myotonia congenita. Neurology 1996; 47:993–8.

19. Зинченко А.П., Лобзин В.С., Бузиновский И.С. Наследственные формы миотонии и миотонические синдромы. Киев: Здоровья, 1979.

20. Harper P.S. Myotonic dystrophy. 3rd ed. London: WB Saunders, 2001.

21. Harper P.S., van Engelen B.G.M., Eymard B., Wilcox D.E. 1st edition. Myotonic Dystrophy: present management, future therapy. New York: Oxford University Press, 2004.

22. Norwood F.L., Harling C., Chinnery P.F. et al. Prevalence of genetic muscle disease in Northern England: in‑depth analysis of a muscle clinic population. Brain 2009; 132:3175–86.

23. Davis B.M., McCurrach M.E., Taneja K.L. et al. Expansion of a CUG trinucleotide repeat in the 3’ untranslated region of myotonic dystrophy protein kinase transcripts results in nuclear retention of transcripts. Proc Nat Acad Sci USA (1997); 94:7388–93.

24. Logigian E.L., Moxley R.T., Blood C.L. et al. Leukocyte CTG repeat length correlates with severity of myotonia in myotonic dystrophy type 1. Neurology 2004;62:1081–9.

25. Logigian E.L., Ciafaloni E., Quinn L.C. et al. Severity, type, and distribution of myotonic discharges are different in type 1 and type 2 myotonic dystrophy. Muscle Nerve 2007;35:479−85.

26. Liquori C.L., Ricker K., Moseley M.L. et al. Myotonic dystrophy type 2 caused by a CCTG expansion in intron 1 of ZNF9. Science 2001;293:864–7.

27. Timothy M. Miller. Differential diagnosis of myotonic disorders. Muscle Nerve 2008;37:293–9.

28. Aminoff M.J., Layzer R.B., Satya‑Murti S. et al. The declining electrical response of muscle to repetitive nerve stimulation in myotonia. Neurology 1977; 27:812–6.

29. Deymeer F., Cakirkaya S., Serdaroglu P. et al. Transient weakness and compound muscle action potential decrement in myotonia congenita. Muscle Nerve 1998; 21:1334–7.

30. Ricker K., Meinck H.M., Stumpf H. europhysiologische Untersuchungen uЁber das Stadium passagerer LaЁhmung bei Myotonia congenita und Dystrophia myotonica. Z Neurol 1973;204:135–48.

31. Colding‑Jorgensen E., Duno M., Schwartz M. et al. Decrement of compound muscle action potential is related to mutation type in myotonia congenita. Muscle Nerve 2003;27:449–55.

32. www.neuromuscular.wustl.edu/activity.html#mc