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

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). ; info:eu-repo/semantics/published