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. 2025 Jul;47(14):3649-3656.
doi: 10.1080/09638288.2024.2424439. Epub 2024 Nov 11.

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

Ronne van Haaren-Pater  1   2 , Walaa Karazi  1 , Daphne Maas  2 , Bart Bloemen  3 , Nicoline Voet  2   4 , Roel van Oorsouw  2 , Ros Quinlivan  5 , Salman Bhai  6 , Andrew Wakelin  7 , Stacey Reason  7 , Jan T Groothuis  2 , Edith Cup  2 , Nicol C Voermans  1
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Free article

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

Ronne van Haaren-Pater et al. Disabil Rehabil. 2025 Jul.
Free article

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.

Keywords: GSD5; McArdle disease; activities of daily living; qualitative research; quality of life; self-management.

Plain language summary

After a correct diagnosis healthcare providers should focus on education about McArdle’s disease and the possible strategies that can be applied by the individual.If needed (psychological) support to process the period before the diagnosis and the diagnosis itself could be considered.Rehabilitation programs should focus on applying the disease-specific strategies such as second wind and the 6-second rule in daily situations, learning to know your limits, finding a balance throughout the week and staying as active as possible.

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