Data from the European registry for patients with McArdle disease (EUROMAC): functional status and social participation
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Data from the European registry for patients with McArdle disease (EUROMAC) : functional status and social participation. / Karazi, Walaa; Scalco, Renata S.; Stemmerik, Mads G.; Løkken, Nicoline; Lucia, Alejandro; Santalla, Alfredo; Martinuzzi, Andrea; Vavla, Marinela; Reni, Gianluigi; Toscano, Antonio; Musumeci, Olimpia; Kouwenberg, Carlyn V; Laforêt, Pascal; Millán, Beatriz San; Vieitez, Irene; Siciliano, Gabriele; Kühnle, Enrico; Trost, Rebecca; Sacconi, Sabrina; Durmus, Hacer; Kierdaszuk, Biruta; Wakelin, Andrew; Andreu, Antoni L; Pinós, Tomàs; Marti, Ramon; Quinlivan, Ros; Vissing, John; Voermans, Nicol C.; EUROMAC Consortium.
In: Orphanet Journal of Rare Diseases, Vol. 18, 210, 2023.Research output: Contribution to journal › Journal article › Research › peer-review
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TY - JOUR
T1 - Data from the European registry for patients with McArdle disease (EUROMAC)
T2 - functional status and social participation
AU - Karazi, Walaa
AU - Scalco, Renata S.
AU - Stemmerik, Mads G.
AU - Løkken, Nicoline
AU - Lucia, Alejandro
AU - Santalla, Alfredo
AU - Martinuzzi, Andrea
AU - Vavla, Marinela
AU - Reni, Gianluigi
AU - Toscano, Antonio
AU - Musumeci, Olimpia
AU - Kouwenberg, Carlyn V
AU - Laforêt, Pascal
AU - Millán, Beatriz San
AU - Vieitez, Irene
AU - Siciliano, Gabriele
AU - Kühnle, Enrico
AU - Trost, Rebecca
AU - Sacconi, Sabrina
AU - Durmus, Hacer
AU - Kierdaszuk, Biruta
AU - Wakelin, Andrew
AU - Andreu, Antoni L
AU - Pinós, Tomàs
AU - Marti, Ramon
AU - Quinlivan, Ros
AU - Vissing, John
AU - Voermans, Nicol C.
AU - EUROMAC Consortium
N1 - Publisher Copyright: © 2023, The Author(s).
PY - 2023
Y1 - 2023
N2 - 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.
AB - 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.
KW - Glycogen storage disease V
KW - Health care
KW - International registry
KW - McArdle disease
KW - Rare diseases
U2 - 10.1186/s13023-023-02825-z
DO - 10.1186/s13023-023-02825-z
M3 - Journal article
C2 - 37488619
AN - SCOPUS:85165714461
VL - 18
JO - Orphanet Journal of Rare Diseases
JF - Orphanet Journal of Rare Diseases
SN - 1750-1172
M1 - 210
ER -
ID: 367922100