期刊
ORPHANET JOURNAL OF RARE DISEASES
卷 15, 期 1, 页码 -出版社
BMC
DOI: 10.1186/s13023-020-01562-x
关键词
Myopathy; Rare diseases; International registry; McArdle disease; Metabolic diseases; Glycogen storage disease
资金
- European Commission's Consumers, Health, Agriculture and Food Executive Agency (CHAFEA) [2012-12-14]
- Spanish Instituto de Salud Carlos III
- European Regional Development Funds, ERDF [PI16/01492, PI19/01313, CIBERER-ACCI 2016-03]
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.
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