TY - JOUR
T1 - Data from the European registry for patients with McArdle disease and other muscle glycogenoses (EUROMAC)
AU - EUROMAC Consortium
AU - Scalco, Renata S.
AU - Lucia, Alejandro
AU - Santalla, Alfredo
AU - Martinuzzi, Andrea
AU - Vavla, Marinela
AU - Reni, Gianluigi
AU - Toscano, Antonio
AU - Musumeci, Olimpia
AU - Voermans, Nicol C.
AU - Kouwenberg, Carlyn V.
AU - Laforêt, Pascal
AU - San-Millán, Beatriz
AU - Vieitez, Irene
AU - Siciliano, Gabriele
AU - Kühnle, Enrico
AU - Trost, Rebeca
AU - Sacconi, Sabrina
AU - Stemmerik, Mads G.
AU - Durmus, Hacer
AU - Kierdaszuk, Biruta
AU - Wakelin, Andrew
AU - Andreu, Antoni L.
AU - Pinós, Tomàs
AU - Martí, Ramon
AU - Quinlivan, Ros
AU - Vissing, John
AU - Baruch, Noemi
AU - Ortega, Francisco J.
AU - Martín, Miguel A.
AU - Navarro, Carmen
AU - Millán, Beatriz San
AU - Castelli, Monica
AU - Zucchi, Federica
AU - Bruno, Claudio
AU - Scalco, Renata
AU - Hadjgeorgiou, Georgios
AU - Zintzaras, Elias
AU - Vissing, John
AU - Vorgerd, Matthias
AU - Zülow, Enrico
AU - Haller, Ronald
AU - Oflazer, Piraye
AU - Pouget, Jean
N1 - Publisher Copyright:
© 2020, The Author(s).
PY - 2020/12
Y1 - 2020/12
N2 - 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.
AB - 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.
KW - Glycogen storage disease
KW - International registry
KW - McArdle disease
KW - Metabolic diseases
KW - Myopathy
KW - Rare diseases
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UR - http://www.scopus.com/inward/citedby.url?scp=85096529503&partnerID=8YFLogxK
U2 - 10.1186/s13023-020-01562-x
DO - 10.1186/s13023-020-01562-x
M3 - Article
C2 - 33234167
AN - SCOPUS:85096529503
SN - 1750-1172
VL - 15
JO - Orphanet Journal of Rare Diseases
JF - Orphanet Journal of Rare Diseases
IS - 1
M1 - 330
ER -