A Qualitative Approach to Health Related Quality-of-Life in Congenital Muscular Dystrophy

Article type: Short Communication

Authors: Cornwall, Kylie M.^{a; *} | Butterfield, Russell J.^{a; b} | Hernandez, Antonio^a | Heatwole, Chad^c | Johnson, Nicholas E.^{a; b}

Affiliations: [a] Department of Neurology, University of Utah School of Medicine, Salt Lake City, UT, USA | [b] Department of Pediatrics, University of Utah School of Medicine, Salt Lake City, UT, USA | [c] Department of Neurology, University of Rochester Medical Center School of Medicine and Dentistry, Rochester, NY, USA

Correspondence: [*] Correspondence to: Kylie Cornwall, Department of Neurology, University of Utah School of Medicine, 175N Medical Dr, Salt Lake City, UT 84132, USA. Tel.: +1 801 585 1499; E-mail: [email protected].

Abstract: Congenital muscular dystrophies (CMD) cause progressive muscle weakness resulting in severe motor disabilities. Previous studies focused on the effects of motor disability. Here, we explore other factors affecting health related quality-of-life (HRQOL) in CMD. Qualitative interviews were conducted with participant-parent dyads to identify symptoms having the greatest impact on HRQOL. Symptoms were classified into themes and domains representing physical, mental, social health, and disease specific issues. Social role limitations and specific activity impairment were frequently mentioned. A greater understanding of symptoms impacting HRQOL will provide a framework for improved clinical care and patient centered outcomes as new therapies are developed.

Keywords: Muscular dystrophy, quality of life, ullrich congenital muscular dystrophy, bethlem myopathy

DOI: 10.3233/JND-170252

Journal: Journal of Neuromuscular Diseases, vol. 5, no. 2, pp. 251-255, 2018