In this study we extensively describe phenotypic and genotypic features of a large cohort of people with McArdle disease, all attending the Highly Specialized McArdle Disease and Related Disorders service at the National Hospital for Neurology and Neurosurgery, London.
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A higher aerobic fitness and an active lifestyle are associated with a higher workload eliciting the so-called SW phenomenon in patients with McArdle disease, which has a positive impact on their exercise tolerance during daily living.
Endogenous KBs are produced during fasting and ketogenic dieting; a diet that has shown early promising results but can be difficult to adhere to. This led us to explore the effects of an oral supplementation with exogenous KBs on exercise capacity and metabolism in patients with GSDV.
This study describes muscle involvement on whole-body MRI (WB-MRI) scans at different stages of McArdle disease. WB-MRI was performed on fifteen genetically confirmed McArdle disease patients between ages 25 to 80.
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