As such, this study aimed to investigate the relative prevalence of LGMD-R and Pompe disease in a large cohort of individuals with genetically unclassified LGMW from 21 countries using a 10-gene NGS panel that includes nine genes for LGMD-R (CAPN3, DYSF, SGCA, SGCB, SGCD, SGCG, FKRP, ANO5, TCAP) and the gene for Pompe disease (GAA). The secondary objective of this study was to identify the region-wise relative prevalence of LGMD-R forms and Pompe disease to create awareness about the overlapping phenotype of Pompe disease with LGMD. This evidence concerns the gene ANO5 and limb-girdle muscular dystrophy.