Data from the European registry for patients with McArdle disease and other muscle glycogenoses (EUROMAC).

Renata S Scalco, Alejandro Lucia, Alfredo Santalla, Andrea Martinuzzi, Marinela Vavla, Gianluigi Reni, Antonio Toscano, Olimpia Musumeci, Nicol C Voermans, Carlyn V Kouwenberg, Pascal Laforêt, Beatriz San-Millán, Irene Vieitez, Gabriele Siciliano, Enrico Kühnle, Rebeca Trost, Sabrina Sacconi, Mads G Stemmerik, Hacer Durmus, Biruta Kierdaszuk, Andrew Wakelin, Antoni L Andreu, Tomàs Pinós, Ramon Marti, Ros Quinlivan, John Vissing

Journal: Orphanet journal of rare diseases 2021;15(1):330

PMID: 33234167

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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 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).

CONCLUSIONS

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.

Address: MRC Centre for Neuromuscular Diseases, UCL Institute of Neurology, National Hospital, London, UK.; Faculty of Sport Sciences, Universidad Europea de Madrid, Madrid, Spain.; Instituto de Investigación Hospital, 12 de Octubre (imas12), Madrid, Spain.; Instituto de Investigación Hospital, 12 de Octubre (imas12), Madrid, Spain.; Universidad Pablo de Olavide, Seville, Spain.; Dept. of Conegliano-Pieve Di Soligo, IRCCS Medea Scientific Insitute, Bosisio Parini, Italy.; Neurology and Neuromuscular Diseases Unit, Department of Clinical and Experimental Medicine, University of Messina, Messina, Italy.; Department of Neurology, Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, Nijmegen, The Netherlands.; Nord/Est/Ile de France Neuromuscular Reference Center, Neurology Department, Raymond-Poincaré Teaching Hospital, Garches. AP-HP. INSERM U1179, END-ICAP, Paris Saclay University, Paris, France.; Pathology Deparment, Alvaro Cunqueiro Hospital, Vigo, Spain.; Rare Diseases and Pediatric Medicine Research Group, Galicia Sur Health Research Institute (IIS Galicia Sur), SERGAS-UVIGO, Vigo, Spain.; Rare Diseases and Pediatric Medicine Research Group, Galicia Sur Health Research Institute (IIS Galicia Sur), SERGAS-UVIGO, Vigo, Spain.; Neurology and Neuromuscular Diseases Unit, Department of Clinical and Experimental Medicine, University of Pisa, Pisa, Italy.; Department of Neurology, Heimer Institute for Muscle Research, University Hospital Bochum, Bochum, Germany.; Peripheral Nervous System and Muscle Department, CHU Nice, Université Côte D'Azur, Institute for Research On Cancer and Aging of Nice (IRCAN), INSERM U1081, CNRS UMR 7284, Faculty of Medicine, Université Côte D'Azur (UCA), Nice, France.; Copenhagen Neuromuscular Center, Section 6921, Rigshospitalet, University of Copenhagen, 2100, Copenhagen, Denmark.; Istanbul Faculty of Medicine, Istanbul University, Istanbul, Turkey.; Department of Neurology, Medical University of Warsaw, Warsaw, Poland.; Association for Glycogen Storage Disease (UK), Bristol, UK.; Biomedical Network Research Centre on Rare Diseases (CIBERER), Instituto de Salud Carlos III, and Research Group on Neuromuscular and Mitochondrial Diseases, Vall d'Hebron Research Institute, Universitat Autònoma de Barcelona, Barcelona, Catalonia, Spain.; Copenhagen Neuromuscular Center, Section 6921, Rigshospitalet, University of Copenhagen, 2100, Copenhagen, Denmark. [email protected].

DOI: 10.1186/s13023-020-01562-x

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MeSH Terms: Europe, Glycogen Storage Disease, Glycogen Storage Disease Type V, Humans, Muscles, Registries