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, John Vissing, Nicol C Voermans
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...
July 25, 2023: Orphanet Journal of Rare Diseases