AI Article Synopsis
- McArdle's disease is a rare genetic condition that disrupts glycogen storage and usually appears in teens or young adults, causing symptoms like fatigue, muscle pain, and exercise intolerance that can often be missed.
- A case report discusses a 25-year-old man struggling with these symptoms, pointing out how difficult it can be for doctors to diagnose the condition due to a lack of awareness.
- The report also emphasizes the need for patients to make lifestyle changes to manage symptoms and the importance of family doctors in supporting these changes.
Article Abstract
McArdle's disease is a rare autosomal recessive disorder that affects glycogen storage. It typically manifests in adolescence or early adulthood with presenting symptoms, such as fatigue, myalgia, exercise intolerance, and cramps, which can be easily overlooked. This case report seeks to offer a comprehensive overview of the perspective of a patient living with McArdle's disease, emphasizing the importance of treatment encouragement. The report documents the case of a 25-year-old male presenting with myalgia and fatigue exacerbated by strenuous exercise, illustrating the diagnostic challenges associated with McArdle's disease, primarily attributable to clinician unawareness. Furthermore, the case highlights the importance of adhering to lifestyle modifications to mitigate symptoms and prevent flare-ups, as well as the crucial role of the family doctor in such lifestyle maintenance.
Download full-text PDF |
Source |
|---|---|
| http://www.ncbi.nlm.nih.gov/pmc/articles/PMC10799634 | PMC |
| http://dx.doi.org/10.7759/cureus.50892 | DOI Listing |
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