AI Article Synopsis

  • Glycogen Storage Disease type 5 (GSD5), or McArdle disease, is characterized by a lack of glycogen phosphorylase enzyme in muscles, resulting in symptoms such as muscle pain and fatigue during physical activity.
  • The study explored the experiences of 13 individuals with GSD5 through in-depth interviews, analyzing their challenges, diagnosis process, and coping strategies.
  • Four main themes emerged, highlighting major difficulties in daily life, the importance of diagnosis for understanding their condition, management techniques like the ‘second wind’ phenomenon, and the crucial role of support networks for improving life quality.

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.

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http://dx.doi.org/10.1080/09638288.2024.2424439DOI Listing

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Article Synopsis
  • Glycogen Storage Disease type 5 (GSD5), or McArdle disease, is characterized by a lack of glycogen phosphorylase enzyme in muscles, resulting in symptoms such as muscle pain and fatigue during physical activity.
  • The study explored the experiences of 13 individuals with GSD5 through in-depth interviews, analyzing their challenges, diagnosis process, and coping strategies.
  • Four main themes emerged, highlighting major difficulties in daily life, the importance of diagnosis for understanding their condition, management techniques like the ‘second wind’ phenomenon, and the crucial role of support networks for improving life quality.
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