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

Publikation: Bidrag til tidsskriftTidsskriftartikelForskningfagfællebedømt

Dokumenter

  • Fulltext

    Forlagets udgivne version, 1,13 MB, PDF-dokument

  • Walaa Karazi
  • Renata S. Scalco
  • Mads G. Stemmerik
  • Nicoline Løkken
  • Alejandro Lucia
  • Alfredo Santalla
  • Andrea Martinuzzi
  • Marinela Vavla
  • Gianluigi Reni
  • Antonio Toscano
  • Olimpia Musumeci
  • Carlyn V Kouwenberg
  • Pascal Laforêt
  • Beatriz San Millán
  • Irene Vieitez
  • Gabriele Siciliano
  • Enrico Kühnle
  • Rebecca Trost
  • Sabrina Sacconi
  • Hacer Durmus
  • Biruta Kierdaszuk
  • Andrew Wakelin
  • Antoni L Andreu
  • Tomàs Pinós
  • Ramon Marti
  • Ros Quinlivan
  • Vissing, John
  • Nicol C. Voermans
  • EUROMAC Consortium

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.

OriginalsprogEngelsk
Artikelnummer210
TidsskriftOrphanet Journal of Rare Diseases
Vol/bind18
Antal sider9
ISSN1750-1172
DOI
StatusUdgivet - 2023

Bibliografisk note

Funding Information:
EUROMAC was supported by several patients’ associations and large networks of patient registries, such as the Association for Glycogen Storage Disease (https://agsd.org.uk/) and the EPIRARE Group on Rare Disease Registries (https://www.eurordis.org/content/epirare). The European Neuromuscular Centre (https://www.enmc.org/) also supported the project by contributing to the organization and funding of a dedicated workshop. We are grateful to all the participants for their participation in EUROMAC.

Publisher Copyright:
© 2023, The Author(s).

ID: 367922100