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

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 weaknes

SUBMITTER: Scalco RS 

PROVIDER: S-EPMC7687836 | biostudies-literature | 2020 Nov

REPOSITORIES: biostudies-literature