Pompe disease, also known as glycogen storage disease type II or acid maltase deficiency, is a rare and debilitating genetic disorder caused by mutations in the GAA gene, leading to a deficiency of the enzyme acid alpha-glucosidase (GAA). This deficiency results in the accumulation of glycogen within lysosomes throughout the body, primarily affecting skeletal, cardiac, and smooth muscles. This abstract provides a comprehensive overview of Pompe disease, including its pathophysiology, clinical manifestations, diagnostic modalities, and therapeutic strategies. The clinical spectrum of Pompe disease ranges from the severe infantile-onset form, characterized by rapidly progressive muscle weakness and cardiac involvement, to the milder late-onset variant, which often presents with muscle weakness and respiratory complications later in life. Accurate and timely diagnosis of Pompe disease is essential for appropriate management. Despite significant progress in understanding and managing Pompe disease, challenges remain in optimizing treatment, addressing the needs of patients with late-onset forms, and enhancing long-term outcomes. Furthermore, ongoing research endeavors aim to uncover the full spectrum of genetic mutations associated with Pompe disease and explore novel therapeutic modalities.