Pompe disease is a rare, life-threatening genetic disorder caused by GAA enzyme deficiency, leading to glycogen buildup and muscle cell destruction. It presents on a spectrum, from infantile-onset (IOPD), which rapidly progresses to early death, to late-onset (LOPD), which causes progressive skeletal and respiratory failure. Diagnosis relies on GAA activity testing and genetic sequencing. Existing enzyme replacement therapies (ERTs) improve outcomes but have limitations in muscle uptake and immune response. Emerging therapies aim to enhance GAA expression in muscle cells, offering hope for improved treatment.