Understanding Symptoms in RYR1-Related Myopathies: A Mixed-Methods Analysis Based on Participants' Experience.

ABSTRACT:

Background

In rare diseases such as ryanodine receptor 1-related myopathies (RYR1-RM), health-related quality of life (HRQoL) measures are critically important so clinicians and researchers can better understand what symptoms are most important to participants, with the ultimate goal of finding tangible solutions for them.

Objectives

The main objective of this study was to characterize symptoms in individuals with RYR1-RM to inform future research. A secondary objective of this study was to analyze positive and negative sentiments regarding symptoms and treatment effects post N-acetylcysteine (NAC) administration in individuals with RYR1-RM.

Methods

The study used a mixed-methods design applying methodological triangulation. Qualitative data were collected via semi-st

SUBMITTER: Capella-Peris C 

PROVIDER: S-EPMC7728827 | biostudies-literature | 2020 Aug

REPOSITORIES: biostudies-literature