McArdle Disease medical overview
Please note that this translation is automated and may not be perfect.
Genetically confirmed patients are requested to register with a patient registry. Details of and linsk to both at:
Sanford CoRDS is a global registry for people with McArdle’s
and other very rare glycogenoses. It is patient-entered.
Euromac is the European registry for people with McArdle’s and other very rare glycogenoses. Register via your clinician .
 Data from the European registry for patients with McArdle disease and other muscle glycogenoses (Euromac). Scalco RS, Lucia A, Santalla A, Martinuzzi A, Vavla M, Reni G, et al. Orphanet J Rare Dis 2020;15:330. https://doi:10.1186/s13023-020-01562-x.
Some comprehensive papers on McArdle disease:
Phenotype and genotype of 197 British patients with McArdle disease: An observational single-centre study. Pizzamiglio C, Mahroo OA, Khan KN, Patasin M, Quinlivan R. J Inherit Metab Dis. 2021;1-10. https://doi: 10.1002/jimd.12438
Data from the European registry for patients with McArdle disease and other muscle glycogenoses (Euromac). Scalco RS, Lucia A, Santalla A et al. Orphanet J Rare Dis 15, 330 (2020). https://doi: 10.1186/s13023-020-01562-x
Centre of Expertise: Comprehensive Care for Patients with McArdle Disease. Reason SL, Cadzow R, Jegier BJ, Wakelin A (2018) . J Rare Disord Diagn Ther. 4:4. https://doi: 10.21767/2380-7245.100174
Genotypic and phenotypic features of all Spanish patients with McArdle disease: a 2016 update. Santalla A, Nogales-Gadea G, Encinar AB, et al. BMC Genomics. 2017;18 (Suppl 8):819. Published 2017 Nov 14. https://doi:10.1186/s12864-017-4188-2
McArdle Disease Medical Overview