ArticleCureus2024
McArdle Disease: A Diagnostic Challenge Due to Nonspecific Clinical Manifestations.
Article in Cureus, 2024. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 1 paper.
What it found
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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
The trial behind it
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Who cites it
1 citing paper in PubMed.
- When Fatigue Hides A Metabolic Myopathy: A Case Report of Mcardle Disease with Molecular Diagnosis.European journal of case reports in internal medicine · 2025Article
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Authors and funding
5 authors.
Funding
No grant is acknowledged in the PubMed record.
Abstract
McArdle disease is a rare myopathy caused by hereditary myophosphorylase deficiency. It presents nonspecific symptoms, such as intolerance to physical exercise, early fatigue, and myalgias, and represents a paradigmatic example of one of the main challenges in clinical practice: the recognition of nonspecific and common symptoms as clinically relevant manifestations of rare diseases. The nonspecificity of symptoms leads to a frequent delay from the onset of first clinical signs to diagnosis. We present a case of McArdle disease diagnosed in a Portuguese adult patient. We believe this report will highlight the need to enhance knowledge and awareness about this rare pathology to diagnose and manage these patients promptly.
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Registered trials
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