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. 2023 Jul 25;18(1):210.
doi: 10.1186/s13023-023-02825-z.

Data from the European registry for patients with McArdle disease (EUROMAC): functional status and social participation

Walaa Karazi  1 , Renata S Scalco  2 , Mads G Stemmerik  3 , Nicoline Løkken  3 , Alejandro Lucia  4   5 , Alfredo Santalla  5   6 , Andrea Martinuzzi  7 , Marinela Vavla  7 , Gianluigi Reni  8 , Antonio Toscano  9 , Olimpia Musumeci  9 , Carlyn V Kouwenberg  1 , Pascal Laforêt  10 , Beatriz San Millán  11   12 , Irene Vieitez  12 , Gabriele Siciliano  13 , Enrico Kühnle  14 , Rebecca Trost  14 , Sabrina Sacconi  15 , Hacer Durmus  16 , Biruta Kierdaszuk  17 , Andrew Wakelin  18 , Antoni L Andreu  19 , Tomàs Pinós  20 , Ramon Marti  20 , Ros Quinlivan  2 , John Vissing #  3 , Nicol C Voermans #  21 ; EUROMAC Consortium
Affiliations

Data from the European registry for patients with McArdle disease (EUROMAC): functional status and social participation

Walaa Karazi et al. Orphanet J Rare Dis. .

Abstract

Background: The European registry for individuals with GSD5 and other muscle glycogenosis (EUROMAC) was launched to register rare muscle glycogenosis in Europe, to facilitate recruitment for research trials and to learn about the phenotypes and disseminate knowledge about the diseases. A network of twenty collaborating partners from eight European countries and the US contributed data on rare muscle glycogenosis in the EUROMAC registry.

Methods: Following the initial report on demographics, neuromuscular features and comorbidity (2020), we here present the data on social participation, previous and current treatments (medication, supplements, diet and rehabilitation) and limitations. Furthermore, the following questionnaires were used: Fatigue severity scale (FSS), WHO Disability Assessment Scale (DAS 2.0), health related quality of life (SF36) and International Physical Activity Questionnaire (IPAQ).

Results: Of 282 participants with confirmed diagnoses of muscle glycogenosis, 269 had GSD5. Of them 196 (73%) completed all questionnaires; for the others, the data were incomplete. The majority, 180 (67%) were currently working. Previous medical treatments included pain medication (23%) and rehabilitation treatment (60%). The carbohydrate-rich diet was reported to be beneficial for 68%, the low sucrose diet for 76% and the ketogenic diet for 88%. Almost all participants (93%) reported difficulties climbing stairs. The median FSS score was 5.22, indicating severe fatigue. The data from the WHODAS and IPAQ was not of sufficient quality to be interpreted.

Conclusions: The EUROMAC registry have provided insight into the functional and social status of participants with GSD5: most participants are socially active despite limitations in physical and daily life activities. Regular physical activity and different dietary approaches may alleviate fatigue and pain.

Keywords: Glycogen storage disease V; Health care; International registry; McArdle disease; Rare diseases.

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Conflict of interest statement

There are no competing interests.

Figures

Fig. 1
Fig. 1
Work Involvement. ‘Total’ shows the number of answers for the question. Currently Working demonstrates how many people are currently working. Job Change demonstrates how many people have changed their job due to their disease (GSD5). Job Modification demonstrates for how many people their employer modified their work environment because of their disease conditions (GSD5). Job Activity demonstrates what people are doing most of their time during work
Fig. 2
Fig. 2
This Pie Chart demonstrates the types of pain medication that is being used by the participants as previous treatment for GSD5. It also shows the percentages per type of pain medication. Total number of answers: 45
Fig. 3
Fig. 3
This pie chart demonstrates the mentioned ‘Other’ Diets in the open-question that have been used as a previous treatment. Ketogenic diet, modified Atkins and carbohydrate free are very similar, together 35%. Total number of answers: 17
Fig. 4
Fig. 4
This pie chart demonstrates the mentioned ‘other’ supplements in the open-question that have been used as a previous treatment. Total number of answers: 19 *MCT: Medium-Chain-Triglyceride
See this image and copyright information in PMC

References

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