Journal of Genetic Counseling

, Volume 24, Issue 1, pp 169–178 | Cite as

Understanding the Experience of Myotonic Dystrophy. Mixed Method Study

  • Amy Østertun GeirdalEmail author
  • Inger Lund-Petersen
  • Arvid Heiberg
Original Research


Myotonic Dystrophy (DM) is a progressive multi-systemic disorder characterized by myotonia and muscle weakness where currently no effective treatment or cure to prevent or delay the disorder exists. This study used mixed methods to examine the experience of living with DM, in patients and their close relatives. Thirteen patients and eight next of kin responded completing Quality of Life and Psychological distress questionnaires in this cross-sectional study, and participating in a semi-structured interview. The findings indicate a higher level of anxiety and hopelessness in next of kin compared to patients, while patients were more depressed. Next of kin reported higher physical, but lower emotional quality of life than patients. Qualitative interviews confirmed the questionnaire findings. The findings from this study may be helpful in genetic counseling. Genetic counselors and geneticists should not only be aware of the burden of being a next of kin, but include discussions about opportunities to minimize the burden in families affected with DM. The findings may be of relevance in counseling for other types of neuromuscular disorders.


Psychological distress Quality of life Myotonic dystrophy Next of kin Mixed method Genetic counseling 



Thanks to statistician, Milada Cvancarova Småstuen for good and useful discussions and to Professor Michael Seltzer for correcting to the manuscript based in his own native English.

Conflict of Interest

Author Amy Østertun Geirdal, Author Inger Lund-Petersen and Author Arvid Heiberg declare that they have no conflict of interest.

Human Studies and Informed Consent

All procedures followed were in accordance with the ethical standards of the responsible committee on human experimentation, Regional Committees for Medical and Health Research Ethics (REC) in Norway and with the Helsinki Declaration of 1975, as revised in 2000. Informed consent was obtained from all patients and next of kin for being included in the study.

Animal Studies

No animal studies were carried out by the authors for this article.


  1. Antonini, G., Soscia, F., Giubilei, F., De Carolis, A., Gragnani, F., Morino, S., Ruberto, A., & Tatarelli, R. (2006). Health-related Quality of Life in myotonic dystrophy type 1 and its relationship with cognitive and emotional functioning. Journal of Rehabilitation Medicine, 38, 181–185.CrossRefGoogle Scholar
  2. APA. (1994). Diagnostic and statistical manual of mental disorders (4th ed.). Washington, DC: American Psychiatric Association.Google Scholar
  3. Beck, A. T., Weissman, A., Lester, D., & Trexler, L. (1974). The masurement of pessimism. The hopelessness scale. Journal of Consulting and Clinical Psychology, 42, 861–865.CrossRefGoogle Scholar
  4. Bjelland, I., Dahl, A. A., Haug, T. T., & Neckelmann, D. (2002). The validity of the Hospital Anxiety and Depression Scale. An updated literature review. Journal of Psychosomatic Research, 52, 69–77.CrossRefGoogle Scholar
  5. Boström, K., & Ahlström, G. (2004). Living with a chronic deteriorating disease: the trajectory with muscular dystrophy over ten years. Disability and Rehabilitation, 26, 1388–1398.CrossRefGoogle Scholar
  6. Boström, K., & Ahlström, G. (2005a). Living with a hereditary disease: persons with muscular dystrophy and their next of kin. American Journal Of Medical Genetics Part A, 136A, 17–24.CrossRefGoogle Scholar
  7. Boström, K., & Ahlström, G. (2005b). Quality of life in patients with muscular dystrophy and their next of kin. International Journal of Rehabilitation Research, 28(2), 103–109.CrossRefGoogle Scholar
  8. Bungener, C., Jouvent, R., & Delaporte, C. (1998). Psychopathological and emotional deficits in myotonic dystrophy. Journal of Neurology, Neurosurgery and Psychiatry, 65, 353–356.CrossRefGoogle Scholar
  9. Cantril, H. (1965). The pattern of human concerns. New Brunswick: Rutgers University Press.Google Scholar
  10. Culebras, A. (2005). Sleep disorders and neuromuscular disease. Seminars in Neurology, 25, 33–38.CrossRefGoogle Scholar
  11. Dhand, U. K., & Dhand, R. (2006). Sleep disorders in neuromuscular diseases. Current Opinion in Pulmonary Medicine, 12, 402–408.CrossRefGoogle Scholar
  12. Dugas, M. J., Schwartz, A., & Francis, K. (2004). Brief report: intolerance of uncertainty, worry, and depression. Cognitive Therapy and Research, 28, 835–842.CrossRefGoogle Scholar
  13. Fokstuen, S., Myring, J., Meredith, L., Ravine, D., & Harper, P. (2001). Eight years’ experience of direct molecular testing for myotonic dystrophy in Wales. Journal of Medical Genetics, 38, 42–46.CrossRefGoogle Scholar
  14. Gandek, B., & Ware, J. E., Jr. (1998). Methods for validating and norming translations of health status questionnaires: the IQOLA Project approach. International Quality of Life Assessment. Journal of Clinical Epidemiology, 51, 953–959.CrossRefGoogle Scholar
  15. Gandek, B., Ware, J. E., Aaronson, N. K., Alonso, J., Apolone, G., Bjorner, J., Brazier, J., Bullinger, M., Fukuhara, S., Leplège, A., & Sullivan, M. (1998). Tests of data quality, scaling assumptions, and reliability of the SF-36 in eleven countries: results from the IQOLA Project. International Quality of Life Assessment. Journal of Clinical Epidemiology, 51, 1149–1158.CrossRefGoogle Scholar
  16. Geirdal, A. Ø. (Ed.). (2007). Supportive groupwork with young arthritic mothers (Vol. 2). Whiting & Birch.Google Scholar
  17. Geirdal, A. Ø., Maehle, L., Heimdal, K., Stormorken, A., Moller, P., & Dahl, A. A. (2006). Quality of Life and its relation to cancer-related stress in women of families with hereditary cancer without demonstrated mutation. Quality of Life Research, 15, 461–470.CrossRefGoogle Scholar
  18. Harper, P. (Ed.). (2009). Myotonic dystrophy (2nd edn). Oxford University Press.Google Scholar
  19. Heap, K. (2005). Gruppemetode for sosial-og helsearbeidere (Groupmethod for social-and health workers). Oslo: Gyldendal.Google Scholar
  20. Hilton-Jones, D. (1997). Myotonic dystrophy—forgotten aspects of an often neglected condition. Current Opinion in Neurology, 10, 399–401.CrossRefGoogle Scholar
  21. Hoxmark, L. (2010). Men hvordan har DU det? (How are YOU doing?). Master thesis. MA-dissertation, Vestfold University College, Oslo.Google Scholar
  22. Kaasa, S., Mastekaasa, A., & Naess, S. (1988). Quality of Life of lung cancer patients in a randomized clinical trial evaluated by a psychosocial well-being questionnaire. Acta Oncologica, 27, 335–342.CrossRefGoogle Scholar
  23. Kalkman, J. S., Schillings, M. L., van der Werf, S. P., Padberg, G. W., Zwarts, M. J., van Engelen, B. G. M., & Bleijenberg, G. (2005). Experienced fatigue in facioscapulohumeral dystrophy, myotonic dystrophy, and HMSN-I. Journal of Neurology, Neurosurgery and Psychiatry, 76, 1406–1409.CrossRefGoogle Scholar
  24. Kolstad, A. (1996). Quality indicators from an American survey interview panel. Paper presented at the Essex ’96 fourth international ISA Conference on Social Science Methodology, University of Essex. UK.Google Scholar
  25. Kvale, S., & Brinkmann, S. (2009). InterViews. Learning the craft of qualitative research interviewing (2nd ed.). Thousand Oaks: Sage.Google Scholar
  26. Mankodi, A. (2008). Myotonic disorders. Neurology India, 56(3), 298–304.CrossRefGoogle Scholar
  27. Mykletun, A., Stordal, E., & Dahl, A. A. (2001). Hospital Anxiety and Depression (HAD) scale: factor structure, item analyses and internal consistency in a large population. British Journal of Psychiatry, 179, 540–544.CrossRefGoogle Scholar
  28. Nätterlund, B., Gunnarsson, L.-G., & Ahlström, G. (2000). Disability, coping and quality of life in individuals with muscular dystrophy: a prospective study over five years. Disability and Rehabilitation, 22, 776–785.CrossRefGoogle Scholar
  29. Olsson, I., Mykletun, A., & Dahl, A. A. (2005). The Hospital Anxiety and Depression Rating Scale: a cross-sectional study of psychometrics and case finding abilities in general practice. BMC Psychiatry, 5, 46.CrossRefGoogle Scholar
  30. Patton, M. Q. (Ed.). (2002). Qualitative research and evaluation methods (3rd ed.). Thousand Oaks: Sage.Google Scholar
  31. Peric, S., Rakocevic-Stojanovic, V., Stevic, Z., Basta, I., Pavlovic, S., Vujanac, V., Marjanovic, I., & Lavrnic, D. (2010). Health related quality of life in patients with myotonic dystrophy type 1 and amyotrophic lateral sclerosis. Acta Neurologica Belgica, 110, 71–77.PubMedGoogle Scholar
  32. Rönnblom, A., Andersson, S., Hellström, P. M., & Danielsson, A. (2002). Gastric emptying in myotonic dystrophy. European Journal of Clinical Investigation, 32(8), 570–574.CrossRefGoogle Scholar
  33. Schara, U., & Schoser, B. (2006). Myotonic Dystrophies type 1 and 2: a summary on current aspects. Seminars in Pediatric Neurology, 13, 71–79.CrossRefGoogle Scholar
  34. Timman, R., Tibben, A., & Wintzen, A. R. (2010). Myotonic dystrophy—the burden for patients and their partners. Journal of Rehabilitation Medicine, 42, 823–830.CrossRefGoogle Scholar
  35. Ware, J. E. J. (1996). Patient-based assessment: tools for monitoring and improving healthcare outcomes. Behavioral Healthcare Tomorrow, 5(88), 87.Google Scholar
  36. Ware, J. E., Jr., Phillips, J., Yody, B. B., & Adamczyk, J. (1996a). Assessment tools: functional health status and patient satisfaction. American Journal of Medical Quality, 11(1), S50–S53.PubMedGoogle Scholar
  37. Ware, J. J., Kosinski, M., & Keller, S. D. (1996b). A 12-Item Short-Form Health Survey: construction of scales and preliminary tests of reliability and validity. Medical Care, 34, 220–233.CrossRefGoogle Scholar
  38. Zigmond, A. S., & Snaith, R. P. (1983). The hospital anxiety and depression scale. Acta Psychiatrica Scandinavica, 67, 361–370.CrossRefGoogle Scholar

Copyright information

© The Author(s) 2014

Open AccessThis article is distributed under the terms of the Creative Commons Attribution 2.0 International License (, which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.

Authors and Affiliations

  • Amy Østertun Geirdal
    • 1
    • 3
    Email author
  • Inger Lund-Petersen
    • 2
  • Arvid Heiberg
    • 3
  1. 1.Faculty of Social SciencesOslo and Akershus University College of Applied SciencesOsloNorway
  2. 2.Centre for Congenital Neuromuscular DiseaseOslo University Hospital, RikshospitaletOsloNorway
  3. 3.Department of Medical GeneticsOslo University Hospital, RikshospitaletOsloNorway

Personalised recommendations