Muscular Dystrophy (MD) Practice Test

Pompe disease results from a deficiency of the lysosomal enzyme acid alpha-glucosidase (GAA). The approved therapy is enzyme replacement with alglucosidase alfa, a recombinant human GAA. After IV infusion, the enzyme is taken up by cells and targeted to lysosomes, where it enables breakdown of glycogen that has been accumulating. This directly compensates for the missing enzyme and can improve muscle function and survival, especially in early-onset cases. Pharmacologic chaperones would aim to stabilize misfolded enzymes, which isn’t the primary issue in Pompe. Gene editing would fix the underlying genetic defect but isn’t a routine therapy, and stem cell infusion doesn’t replace the deficient lysosomal enzyme.