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

Publikation: Bidrag til tidsskriftTidsskriftartikelForskningpeer review

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  • 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
  • EUROMAC Consortium
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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.

OriginalsprogEngelsk
TidsskriftOrphanet Journal of Rare Diseases
Vol/bind15
Udgave nummer1
Sider (fra-til)330
ISSN1750-1172
DOI
StatusUdgivet - 24 nov. 2020

ID: 61348265