Experiences of living with GSD5 (McArdle) disease: challenges and strategies. A qualitative study in the Netherlands

Abstract

Purpose Glycogen Storage Disease type 5 (GSD5 or McArdle disease) is caused by deficient glycogen phosphorylase enzyme activity in skeletal muscles. Individuals with GSD5 experience symptoms like muscle pain, fatigue, and tachycardia during exertion. Our study aimed to explore the lived experiences of individuals with GSD5, focusing on their daily challenges, the process of being diagnosed, and management strategies. Methods Participants were invited to share their life experiences through in-depth, semi-structured interviews, and the collected data was analyzed using thematic analysis. Results Using purposeful sampling, 13 individuals with GSD5 were recruited for the study. The analysis identified four key themes: “experiencing incomprehensible difficulties,” “diagnosis as an explanation,” “finding ways to manage daily challenges,” and “listening to your body.” These themes reflect diverse experiences of daily functioning, physical challenges faced, the pivotal role of diagnosis in understanding symptoms, and the adoption of management strategies like using the ‘second wind’ phenomenon. Participants emphasized the importance of support networks and adaptive lifestyle changes in effectively managing their condition. Conclusions Early diagnosis and tailored management strategies are critical for improving outcomes and quality of life in individuals with GSD5. Timely diagnosis and comprehensive multidisciplinary care are essential for effectively managing the complexities of this rare metabolic disorder.