2023-12-15 09:50:40
With data from 282 patients from eight European countries including France, as well as the United States, the EUROMAC registry, created in 2018, constitutes the main source of knowledge on McArdle’s disease and other muscular glycogenoses, with the exception of Pompe disease which has its own register. After a first survey published in 2020 on the characteristics and symptoms of the disease, this registry allowed the publication of a new study which explores the social participation and functional limitations of people affected.
Social participation preserved…
Among the 269 people specifically suffering from McArdle’s disease, 196 completed questionnaires, of which 67% said they exercised a professional activity. Out of ten respondents, three had to change jobs and two have already benefited from adjustments to their workstation due to their condition.
…despite daily challenges
The majority of participants report difficulty in daily activities such as climbing stairs, running, walking quickly or carrying loads with a very high fatigue score. However, for many, these difficulties seem to be alleviated by practicing appropriate physical activity or by adopting a specific diet, particularly a ketogenic diet or, on the contrary, enriched with sugars.
Source
Data from the European registry for patients with McArdle disease (EUROMAC): functional status and social participation
Karazi W, Scalco RS, Stemmerik MG et al
Orphanet J Rare Dis. 2023 Jul 25;18(1):210
1702634337
#McArdle #disease #daily #challenges #social #resilience