Late-onset Pompe disease (LOPD) in Belgium: clinical characteristics and outcome measures

Abstract Background Late-onset Pompe disease (LOPD) is a rare, hereditary, progressive disorder that is usually characterized by limb-girdle muscle weakness and/or respiratory insufficiency. LOPD is caused by mutations in the acid alpha-glucosidase ( GAA ) gene and treated with enzyme replacement therapy (ERT). Methods We studied the clinical, brain imaging, and genetic features of the Belgian cohort of late-onset Pompe disease patients ( N = 52), and explored the sensitivity of different outcome measures, during a longitudinal period of 7 years (2010–2017), including the activity limitations... Mehr ...