Our purpose was to examine the MFO rate in patients with McArdle disease, comprising an inherited condition caused by complete blockade of muscle glycogen metabolism, compared to healthy controls.
Here we hypothesized an additional role for muscle mitochondrial network alterations associated with massive intracellular glycogen accumulation.
Mov2improv APP for patients with McArdle disease will be released soon and will be freely accessible in Google Play and Apple Store.
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.
To explore the potential of a low carbohydrate ketogenic diet (LCKD) to counter physical activity intolerance, pain and muscle damage for glycogen storage disease (GSD) V and VII, and highlight the realistic possibility that nutrition could be key.
To highlight the benefits of a partnership between patient advocacy organizations (PAO) and clinical researchers in order to clinically study the prior anecdotal patient experience of utilizing a low-carbohydrate ketogenic diet (LCKD) to manage McArdle disease.
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.
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.
The first two EUROMAC registry papers have been recently published (November 2020) in the Orphanet Journal of Rare Diseases.
The project kicked off this Tuesday, 14 May at the Jean Monet Building (European Commission) in Luxembourg, when the partners sat together with one representative of the European Commission to plan the work to be done over the next 3 years of the project.
As well as McArdle Disease, EUROMAC also covers related muscle conditions that are even more rare.
Check out the views and feelings from patients affected by MCArdle’s Diseases and other forms of rare glycogenoses.
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