Data from the European registry for patients with McArdle disease (EUROMAC) : functional status and social participation
Karazi, Walaa (Radboud University Nijmegen Medical Center (Holanda))
Scalco, Renata S. (UCL Institute of Neurology (Londres, Regne Unit))
Stemmerik, Mads G. (University of Copenhagen)
Løkken, Nicoline (University of Copenhagen)
Lucia, Alejandro (Hospital 12 de Octubre (Madrid))
Santalla, Alfredo (Universidad Pablo de Olavide)
Martinuzzi, Andrea (IRCCS Medea Scientifc Insitute (Conegliano-Pieve Di Soligo, Itàlia))
Vavla, Marinela (IRCCS Medea Scientifc Insitute (Conegliano-Pieve Di Soligo, Itàlia))
Reni, Gianluigi (Autonomous Province of Bolzano)
Toscano, Antonio (University of Messina)
Musumeci, Olimpia (University of Messina)
Kouwenberg, Carlyn V. (Radboud University Nijmegen Medical Center (Holanda))
Laforêt, Pascal (Raymond Poincaré University Hospital (Garches, França))
Millán, Beatriz San (Alvaro Cunqueiro Hospital (Vigo, Espanya))
Vieitez, Irene (Alvaro Cunqueiro Hospital (Vigo, Espanya))
Siciliano, Gabriele (Università di Pisa)
Kühnle, Enrico (University Hospital Bochum (Alemanya))
Trost, Rebecca (University Hospital Bochum (Alemanya))
Sacconi, Sabrina (Université Côte D'Azur (Nice, França))
Durmus, Hacer (Istanbul University. Istanbul Faculty of Medicine)
Kierdaszuk, Biruta (Medical University of Warsaw (Polònia))
Wakelin, Andrew (Association for Glycogen Storage Disease (Bristol, Regne Unit))
Andreu Périz, Antoni Lluís (European Infrastructure for Translational Medicine (Amsterdam, Holanda))
Pinós Figueras, Tomàs (Hospital Universitari Vall d'Hebron. Institut de Recerca)
Martí, Ramon A. (Hospital Universitari Vall d'Hebron. Institut de Recerca)
Quinlivan, Ros (UCL Institute of Neurology (Londres, Regne Unit))
Vissing, John (University of Copenhagen)
Voermans, Nicol C. (Radboud University Nijmegen Medical Center (Holanda))

Date:	2023
Abstract:	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. 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). 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. 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.
Rights:	Aquest document està subjecte a una llicència d'ús Creative Commons. Es permet la reproducció total o parcial, la distribució, la comunicació pública de l'obra i la creació d'obres derivades, fins i tot amb finalitats comercials, sempre i quan es reconegui l'autoria de l'obra original.
Language:	Anglès
Document:	Article ; recerca ; Versió publicada
Subject:	McArdle disease ; Glycogen storage disease V ; Rare diseases ; International registry ; Health care
Published in:	Orphanet journal of rare diseases, Vol. 18 (july 2023) , ISSN 1750-1172

DOI: 10.1186/s13023-023-02825-z
PMID: 37488619

9 p, 1.1 MB

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