McArdle’s disease: what impact on patients’ social participation?

The EUROMAC registry brings together information from 269 people with McArdle’s disease from eight European countries, including France, as well as the United States. A study based on the responses of 73% of these patients sheds new light on their disease in real life:

• 67% of respondents said they were working, 29% had had to change jobs because of their disease, and 22% had benefited from workstation adjustments;
• the majority report functional limitations, including difficulty climbing stairs (93%), running (89%), walking fast (85%) or carrying loads (81%)…
• the median Fatigue Severity Scale (FSS) score is 5.22 ;
• carbohydrate-enriched, low-sucrose and ketogenic diets were beneficial for 68%, 76% and 88% of respondents respectively;
• 60% of patients used rehabilitation and 23% painkillers to alleviate symptoms.

 

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