Neuropathic pain component in patients with myotonic dystrophy type 2 – a pilot study

Authors: O. Parmová 1;  E. Vlčková 1,2;  J. Bednařík 1,2;  S. Voháňka 1,2
Authors‘ workplace: Neurologická klinika LF MU a FN Brno 1;  CEITEC – Středoevropský technologický institut, Brno 2
Published in: Cesk Slov Neurol N 2019; 82(3): 322-332
Category: Original Paper


Aim: Patients with myotonic dystrophy (MD) may suffer from variable types of pain and some descriptors suggest the involvement of a possible neuropathic pain component in MD patients. The aim of the study was to evaluate the occurrence of neuropathic pain descriptors and sensory abnormalities in patients with myotonic dystrophy type 2 (MD2) and to disclose the presence of some relevant psychological factors in chronic pain conditions.

Patients and methods: A group of 23 patients with MD2 suffering from chronic pain and a group of 24 age- and gender-matched healthy controls were examined using the PainDETECT questionnaire and the Neuropathic Pain Symptom Inventory questionnaire (NPSI), a comprehensive protocol of quantitative sensory testing (QST) and a battery of self-reported psychological tests.

Results: Based on the PainDETECT questionnaire, the presence of a neuropathic component of pain was evaluated as possible or probable in more than half of the patients. According to the NPSI questionnaire, the most frequently described spontaneous pain in patients with MD2 was squeezing. Very common are brief pain attacks of stabbing pain, and two thirds of patients also described abnormal sensations (pins and needles and/or tingling) in the painful area. QST in lower legs showed significantly more frequent hypoesthesia for cold and hyperalgesia for mechanical pain stimuli and also higher incidence of paradoxical heat sensation. Patients with MD2 also showed significantly more frequent depression and pain catastrophizing.

Conclusion: The pain descriptors evaluated by PainDETECT and NPSI questionnaires, and sensory profile assessed by the QST protocol performed in this pilot study support the hypothesis that pain in MD2 patients probably has a neuropathic component.

The authors declare they have no potential conflicts of interest concerning drugs, products, or services used in the study.

The Editorial Board declares that the manuscript met the ICMJE “uniform requirements” for biomedical papers.





一群23 MD2患者遭受慢性疼痛和一群24岁——准确性健康对照检查库存使用PainDETECT问卷和神经性疼痛症状问卷(NPSI),一个全面的协议的定量感觉测试(QST)和自我心理测试的电池。








myotonic dystrophy – Pain – Neuropathic pain – descriptors – Psychology


1. Breivik H, Collett B, Ventafridda V et al. Survey of chronic pain in Europe: prevalence, impact on daily life, and treatment. Eur J Pain Lond Engl 2006; 10(4): 287–333. doi: 10.1016/j.ejpain.2005.06.009.

2. Leadley RM, Armstrong N, Lee YC et al. Chronic diseases in the European Union: the prevalence and health cost implications of chronic pain. J Pain Palliat Care Pharmacother 2012; 26(4): 310–325. doi: 10.3109/15360288. 2012.736933.

3. Reid KJ, Harker J, Bala MM et al. Epidemiology of chronic non-cancer pain in Europe: narrative review of prevalence, pain treatments and pain impact. Curr Med Res Opin 2011; 27(2): 449–462. doi: 10.1185/03007995.2010.545813.

4. Guy-Coichard C, Nguyen DT, Delorme T et al. Pain in hereditary neuromuscular disorders and myasthenia gravis: a national survey of frequency, characteristics, and impact. J Pain Symptom Manage 2008; 35(1): 40–50. doi: 10.1016/j.jpainsymman.2007.02.041.

5. Jensen MP, Abresch RT, Carter GT et al. Chronic pain
in persons with neuromuscular disease. Arch Phys Med
Rehabil 2005; 86(6): 1155–1163. doi: 10.1016/j.apmr.2004.

6. Jensen MP, Hoffman AJ, Stoelb BL et al. Chronic pain in persons with myotonic dystrophy and facioscapulohumeral dystrophy. Arch Phys Med Rehabil 2008; 89(2): 320–328. doi: 10.1016/j.apmr.2007.08.153.

7. Abresch RT, Carter GT, Jensen MP et al. Assessment of pain and health-related quality of life in slowly progressive neuromuscular disease. Am J Hosp Palliat Care 2002; 19(1): 39–48. doi: 10.1177/104990910201900109.

8. Suokas KI, Haanpää M, Kautiainen H et al. Pain in patients with myotonic dystrophy type 2: a postal survey in Finland. Muscle Nerve 2012; 45(1): 70–74. doi: 10.1002/mus.22249.

9. Heatwole C, Bode R, Johnson N et al. Patient-reported impact of symptoms in myotonic dystrophy type 1 (PRISM-1). Neurology 2012; 79(4): 348–357. doi: 10.1212/WNL.0b013e318260cbe6.

10. George A, Schneider-Gold C, Zier S et al. Musculo--skeletal pain in patients with myotonic dystrophy type 2.
Arch Neurol 2004; 61(12): 1938–1942. doi: 10.1001/archneur.61.12.1938.

11. Leonardis L. Peripheral neuropathy in patients with myotonic dystrophy type 2. Acta Neurol Scand 2017; 135(5): 568–575. doi: 10.1111/ane.12635.

12. Nojszewska M, Łusakowska A, Szmidt-Salkowska E
et al. Peripheral nerve involvement in myotonic dystrophy type 2 – similar or different than in myotonic dystrophy type 1? Neurol Neurochir Pol 2015; 49(3): 164–170. doi: 10.1016/j.pjnns.2015.04.008.

13. Florence JM, Pandya S, King WM et al. Intrarater reliability of manual muscle test (Medical Research Council scale) grades in Duchenne’s muscular dystrophy. Phys Ther 1992; 72(2): 115–126.

14. Bouhassira D, Attal N, Fermanian J et al. Development and validation of the Neuropathic Pain Symptom Inventory. Pain 2004; 108(3): 248–257. doi: 10.1016/j.pain.2003.12.024.

15. Šrotová I, Vlčková E, Straková J et al. Validace české verze Neuropathic Pain Symptom Inventory (NPSIcz). Cesk Slov Neurol N 2015; 78/111(1): 45–56.

16. Freynhagen R, Baron R, Gockel U et al. painDETECT: a new screening questionnaire to identify neuropathic components in patients with back pain. Curr Med Res Opin 2006; 22(10): 1911–1920. doi: 10.1185/030079906X132488.

17. Rolke R, Magerl W, Campbell KA et al. Quantitative sensory testing: a comprehensive protocol for clinical trials. Eur J Pain 2006; 10(1): 77–88. doi: 10.1016/j.ejpain.2005.02.003.

18. Šrotová I, Vlčková E, Straková J et al. Validace české verze komplexního protokolu kvantitativního testování senzitivity. Cesk Slov Neurol N 2015; 78/111(4): 442–452.

19. Backonja MM, Attal N, Baron R et al. Value of quantitative sensory testing in neurological and pain disorders: NeuPSIG consensus. Pain 2013; 154(9): 1807–1819. doi: 10.1016/j.pain.2013.05.047.

20. Beck AT, Ward CH, Mendelson M et al. An inventory for measuring depression. Arch Gen Psychiatry 1961: 561–571.

21. Osman A, Barrios FX, Kopper BA et al. Factor structure, reliability, and validity of the Pain Catastrophizing Scale. J Behav Med 1997; 20(6): 589–605.

22. Hilbert JE, Ashizawa T, Day JW et al. Dia­gnostic odyssey of patients with myotonic dystrophy. J Neurol 2013; 260(10): 2497–2504. doi: 10.1007/s00415-013-69

23. Mense S. Muscle pain: mechanisms and clinical significance. Dtsch Arztebl Int 2008; 105(12): 214–219. doi: 10.3238/artzebl.2008.0214.

24. Meola G, Cardani R. Myotonic dystrophy type 2: an update on clinical aspects, genetic and pathomolecular mechanism. J Neuromuscul Dis 2015; 2 (Suppl 2): S59–S71. doi: 10.3233/JND-150088.

25. Epping R, Verhagen AP, Hoebink EA et al. The dia­gnostic accuracy and test-retest reliability of the Dutch PainDETECT and the DN4 screening tools for neuropathic pain in patients with suspected cervical or lumbar radiculopathy. Musculoskelet Sci Pract 2017; 30: 72–79. doi: 10.1016/j.msksp.2017.05.010.

26. Andrasinova T, Kalikova E, Kopacik R et al. Evaluation of the neuropathic component of chronic low back pain. Clin J Pain 2019; 35(1): 7–17. doi: 10.1097/AJP.00000000 00000653.

27. Finnerup NB, Haroutounian S, Kamerman P et al. Neuropathic pain: an updated grading system for research and clinical practice. Pain 2016; 157(8): 1599–1606. doi: 10.1097/j.pain.0000000000000492.

28. Vlčková E, Šrotová I. Vyšetření senzitivity. Cesk Slov Neurol N 2014; 77/110(4): 402–418.

29. Moshourab R, Palada V, Grunwald S et al. A molecular signature of myalgia in myotonic dystrophy 2. EBioMedicine 2016; 7: 205–211. doi: 10.1016/j.ebio­m.2016.03.017.

30. Blumenstiel K, Gerhardt A, Rolke R et al. Quantitative sensory testing profiles in chronic back pain are distinct from those in fibromyalgia. Clin J Pain 2011; 27(8): 682–690. doi: 10.1097/AJP.0b013e3182177654.

31. Üçeyler N, Zeller D, Kahn AK et al. Small fibre pathology in patients with fibromyalgia syndrome. Brain 2013; 136(Pt 6): 1857–1867. doi: 10.1093/brain/awt053.

32. Auvinen S, Suominen T, Hannonen P et al. Myotonic dystrophy type 2 found in two of sixty-three persons dia­gnosed as having fibromyalgia. Arthritis Rheum 2008; 58(11): 3627–3631. doi: 10.1002/art.24037.

33. Antonini G, Soscia F, Giubilei F et al. Health-related quality of life in myotonic dystrophy type 1 and its relationship with cognitive and emotional functioning. J Rehabil Med 2006; 38(3): 181–185. doi: 10.1080/16501970500477967.

34. Moussavi S, Chatterji S, Verdes E et al. Depression, chronic diseases, and decrements in health: results from the World Health Surveys. Lancet 2007; 370(9590): 851–858. doi: 10.1016/S0140-6736(07)61415-9.

35. Bair MJ, Robinson RL, Katon W et al. Depression and pain comorbidity: a literature review. Arch Intern Med 2003; 163(20): 2433–2445. doi: 10.1001/archinte.163.20.2433

Paediatric neurology Neurosurgery Neurology

Article was published in

Czech and Slovak Neurology and Neurosurgery

Issue 3

2019 Issue 3

Most read in this issue
Forgotten password

Enter the email address that you registered with. We will send you instructions on how to set a new password.


Don‘t have an account?  Create new account