Data from the European registry for patients with McArdle disease and other muscle glycogenoses (EUROMAC)
Scalco, Renata S. (National Hospital (Regne Unit))
Lucia, Alejandro (Universidad Europea de Madrid)
Santalla, Alfredo (Universidad Pablo de Olavide)
Martinuzzi, Andrea (IRCCS Medea Scientific Insitute (Itàlia))
Vavla, Marinela (IRCCS Medea Scientific Insitute (Itàlia))
Reni, Gianluigi (IRCCS Medea Scientific Insitute (Itàlia))
Toscano, Antonio (University of Messinae)
Musumeci, Olimpia (University of Messina)
Voermans, Nicol C. (Radboud University Medical Center)
Kouwenberg, Carlyn V. (Radboud University Medical Center)
Laforêt, Pascal (Paris Saclay University)
San-Millán, Beatriz (Instituto de Investigación Sanitaria Galicia Sur)
Vieitez, Irene (Instituto de Investigación Sanitaria Galicia Sur)
Siciliano, Gabriele (University of Pisa)
Kühnle, Enrico (University Hospital Bochum)
Trost, Rebeca (University Hospital Bochum)
Sacconi, Sabrina (Université Côte D'Azur)
Stemmerik, Mads G. (Copenhagen University Hospital Rigshospitalet)
Durmus, Hacer (Istanbul University)
Kierdaszuk, Biruta (Medical University of Warsaw)
Wakelin, Andrew (Association for Glycogen Storage Disease (Regne Unit))
Andreu Périz, Antoni Lluís (Hospital Universitari Vall d'Hebron. Institut de Recerca)
Pinós Figueras, Tomàs (Hospital Universitari Vall d'Hebron. Institut de Recerca)
Martí, Ramon A (Hospital Universitari Vall d'Hebron. Institut de Recerca)
Quinlivan, Ros (National Hospital (Regne Unit))
Vissing, John (Copenhagen University Hospital Rigshospitalet)
Universitat Autònoma de Barcelona

Date:	2020
Abstract:	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. Of 282 patients with confirmed diagnoses of muscle glycogenosis, 269 had McArdle disease. New phenotypic 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). The EUROMAC project and registry have provided insight into new phenotypic features of McArdle disease and the variety of co-comorbidities affecting people with McArdle disease. This should lead to better management 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.
Grants:	Ministerio de Economía, Industria y Competitividad PI16/01492 Instituto de Salud Carlos III PI19/01313
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:	Myopathy ; Rare diseases ; International registry ; McArdle disease ; Metabolic diseases ; Glycogen storage disease
Published in:	Orphanet Journal of Rare Diseases, Vol. 15 (november 2020) , ISSN 1750-1172

DOI: 10.1186/s13023-020-01562-x
PMID: 33234167

8 p, 1.1 MB

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