Data from the European registry for patients with McArdle disease and other muscle glycogenoses (EUROMAC)
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RESEARCH
Data from the European registry for patients with McArdle disease and other muscle glycogenoses (EUROMAC) Renata S. Scalco1, Alejandro Lucia2,3, Alfredo Santalla3,4, Andrea Martinuzzi5, Marinela Vavla5, Gianluigi Reni5, Antonio Toscano6, Olimpia Musumeci6, Nicol C. Voermans7, Carlyn V. Kouwenberg7, Pascal Laforêt8, Beatriz San‑Millán9,10, Irene Vieitez10, Gabriele Siciliano11, Enrico Kühnle12, Rebeca Trost12, Sabrina Sacconi13, Mads G. Stemmerik14, Hacer Durmus15, Biruta Kierdaszuk16, Andrew Wakelin17, Antoni L. Andreu18, Tomàs Pinós18, Ramon Marti18, Ros Quinlivan1 and John Vissing14* on behalf of EUROMAC Consortium
Abstract Background: The European registry for patients with McArdle disease and other muscle glycogenoses (EUROMAC) was launched to register rare muscle glycogenoses in Europe, to facilitate recruitment for research trials and to learn about the phenotypes and disseminate knowledge about the diseases through workshops and websites. A network of twenty full and collaborating partners from eight European countries and the US contributed data on rare muscle glycogenosis in the EUROMAC registry. After approximately 3 years of data collection, the data in the registry was analysed. Results: Of 282 patients with confirmed diagnoses of muscle glycogenosis, 269 had McArdle disease. New phe‑ notypic features of McArdle disease were suggested, including a higher frequency (51.4%) of fixed weakness than reported before, normal CK values in a minority of patients (6.8%), ptosis in 8 patients, body mass index above background population and number of comorbidities with a higher frequency than in the background population (hypothyroidism, coronary heart disease). Conclusions: The EUROMAC project and registry have provided insight into new phenotypic features of McArdle dis‑ ease and the variety of co-comorbidities affecting people with McArdle disease. This should lead to better manage‑ ment of these disorders in the future, including controlling weight, and preventive screening for thyroid and coronary artery diseases, as well as physical examination with attention on occurrence of ptosis and fixed muscle weakness. Normal serum creatine kinase in a minority of patients stresses the need to not discard a diagnosis of McArdle disease even though creatine kinase is normal and episodes of myoglobinuria are absent. Keywords: Myopathy, Rare diseases, International registry, McArdle disease, Metabolic diseases, Glycogen storage disease
*Correspondence: [email protected] 14 Copenhagen Neuromuscular Center, Section 6921, Rigshospitalet, University of Copenhagen, 2100 Copenhagen, Denmark Full list of author information is available at the end of the article
Introduction Understanding rare conditions is usually based on case series or small observational studies. Thus, gaining knowledge about disease phenotypes and development is challenging. For instance, lack of natural history data negatively impacts on identification of clinically important endpoints to be used in clinical trials [1].
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