• Muscle biopsy in late onset pompe disease(LOPD) may fail in 9-35% unspecific.• A limb-girdle muscle weakness (LGMW) can be caused in 2.9% by an LOPD.• Measuring of GAA enzyme activity using DBS is sensitive to identify LOPD patients.• All patients with LGMW should be examined by DBS before conducting a muscle biopsy.

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