This thesis aimed to investigate whether physiotherapeutic care of patients with Pompe disease can be a valuable addition to the existing ERT and how this care can be organised. The studies included in this thesis explore the referral patterns to contemporary physiotherapeutic care and their content (both regular physiotherapy and pelvic floor physiotherapy), the use of exercise training to improve patients’ functioning (beyond any improvements obtained from ERT), as well as risk factors influencing patients’ walking performance.