Resumen:
EUROMAC is a European registry of McArdle Disease patients and other very rare muscle glycogenosis (glycogenosis types 0, IV, VII, IX, X, XIII; phosphoglycerate kinase 1 deficiency and muscle lactate dehydrogenase deficiency) presenting with exercise intolerance as the key symptom. EUROMAC aims to promote awareness and understanding of McArdle disease and related conditions to harmonize standards of diagnosis and care and to promote research. EUROMAC was created and developed by a network of 15 partners from 7 EU countries, Turkey and US. Initially funded by the European Commission's Directorate General for Health and Consumers, the registry is currently supported by a grant received from the Fondo de Investigaciones Sanitarias (PI116/01492). Following informed consent from the participant, data (demographics, main clinical symptoms, comorbidities, age at diagnosis and genetic diagnosis) were uploaded onto a safe, encrypted web-based registry (https://www.registryeuromac.eu/en/). In parallel, education, training and dissemination activities were performed. EUROMAC is the largest international registry for patients with McArdle disease. As of March 2018, 313 patients from 10 different countries we...