caa a22 4500 605544204 CHVBK 20210128100930.0 cr unu---uuuuu 210128e20150201xx s 000 0 eng 10.1007/s10897-014-9752-1 doi (NATIONALLICENCE)springer-10.1007/s10897-014-9752-1 Understanding the Experience of Myotonic Dystrophy. Mixed Method Study [Elektronische Daten] [Amy Geirdal, Inger Lund-Petersen, Arvid Heiberg] 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. The Author(s), 2014 Psychological distress nationallicence Quality of life nationallicence Myotonic dystrophy nationallicence Next of kin nationallicence Mixed method nationallicence Genetic counseling nationallicence Geirdal Amy Faculty of Social Sciences, Oslo and Akershus University College of Applied Sciences, PB 4, St Olavs plass, 0130, Oslo, Norway aut Lund-Petersen Inger Centre for Congenital Neuromuscular Disease, Oslo University Hospital, Rikshospitalet, Oslo, Norway aut Heiberg Arvid Department of Medical Genetics, Oslo University Hospital, Rikshospitalet, Oslo, Norway aut Journal of Genetic Counseling Springer US; http://www.springer-ny.com 24/1(2015-02-01), 169-178 1059-7700 24:1<169 2015 24 10897 https://doi.org/10.1007/s10897-014-9752-1 text/html Onlinezugriff via DOI BK010053 XK010053 XK010000 Metadata rights reserved Springer special CC-BY-NC licence nationallicence 1 research-article jats NATIONALLICENCE NATIONALLICENCE NL-springer NATIONALLICENCE 856 40 https://doi.org/10.1007/s10897-014-9752-1 text/html Onlinezugriff via DOI NATIONALLICENCE 700 1- Geirdal Amy Faculty of Social Sciences, Oslo and Akershus University College of Applied Sciences, PB 4, St Olavs plass, 0130, Oslo, Norway aut NATIONALLICENCE 700 1- Lund-Petersen Inger Centre for Congenital Neuromuscular Disease, Oslo University Hospital, Rikshospitalet, Oslo, Norway aut NATIONALLICENCE 700 1- Heiberg Arvid Department of Medical Genetics, Oslo University Hospital, Rikshospitalet, Oslo, Norway aut NATIONALLICENCE 773 0- Journal of Genetic Counseling Springer US; http://www.springer-ny.com 24/1(2015-02-01), 169-178 1059-7700 24:1<169 2015 24 10897