The prevalence and impact of scoliosis in Pompe disease: Lessons learned from the Pompe Registry

► Little has previously been reported on the prevalence and impact of scoliosis in Pompe disease. ► We present a cross-sectional analysis of scoliosis data from the Pompe Registry. ► Scoliosis was found most frequently in those with onset of Pompe symptoms as children and juveniles. ► Scoliosis in Pompe disease was found in the majority of individuals who were wheelchair users. ► Patients who have Pompe disease with scoliosis showed lower pulmonary function and more need for respiratory support.