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Open Access 01-02-2015 | Original Research

Understanding the Experience of Myotonic Dystrophy. Mixed Method Study

Authors: Amy Østertun Geirdal, Inger Lund-Petersen, Arvid Heiberg

Published in: Journal of Genetic Counseling | Issue 1/2015

Abstract

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.

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Title: Understanding the Experience of Myotonic Dystrophy. Mixed Method Study
Authors: Amy Østertun Geirdal
Inger Lund-Petersen
Arvid Heiberg
Publication date: 01-02-2015
Publisher: Springer New York
Published in: Journal of Genetic Counseling / Issue 1/2015
Print ISSN: 1059-7700
Electronic ISSN: 1573-3599
DOI: https://doi.org/10.1007/s10897-014-9752-1

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