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/10.1080/09638288.2024.2424439 | DOI Listing |
Disabil Rehabil
November 2024
Department of Neurology, Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, Nijmegen, the Netherlands.
J Neuromuscul Dis
January 2024
Department of Neurology, Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, Nijmegen, The Netherlands.
Background: Glycogen storage disease type 5 (GSD) is an autosomal recessive inherited metabolic myopathy caused by a deficiency of the enzyme muscle glycogen phosphorylase. Individuals with GSD5 experience physical activity intolerance.
Objective: This patient-led study aimed to capture the daily life experiences of GSD5, with a focus on adapting to and coping with their physical activity intolerance.
Orphanet J Rare Dis
July 2023
Neuromuscular Center Nijmegen, Department of Neurology, 910, Donders Institute for Brain, Cognition and Behaviour, Radboud University Nijmegen Medical Center, P.O. Box 9101, 6500 HB, Nijmegen, The Netherlands.
Talanta
November 1995
Geological Survey of Canada, Ottawa, Ont. K1A OE8, Canada.
A microwave digestion technique using a mixture of HF + HNO(3) + HCl + H(3)BO(3) was found to be effective for the rapid dissolution of various silicate rock and sediment reference samples. From the solutions thus prepared, it was possible to determine quantitatively trace and ultratrace amounts of yttrium, thorium, uranium and the lanthanides by inductively coupled plasma-mass spectrometry (ICP-MS) without any separation of matrix elements or preconcentration. In the ICP-MS determinations, oxide and non-spectral interferences on individual masses of the rare earth element ions were corrected by the method of algebraic approach of elimination and dilution, respectively, and measurement drift was controlled by ruthenium and rhenium internal standards.
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