Pompe Disease - Advances in Diagnosis and Management

This review examines current breakthroughs in the understanding and treatment of Pompe disease, a genetic disorder caused by a deficiency in the GAA enzyme that leads to harmful glycogen buildup. The text highlights how early diagnosis is improving through umbilical cord blood testing in newborn screening, while next-generation enzyme replacement therapies (ERTs) like avalglucosidase alfa offer better outcomes for patients. Despite these medical gains, the sources emphasize that the central nervous system remains a difficult target for current drugs, prompting research into gene therapy and innovative delivery systems. Digital health technologies and advanced imaging are also featured as essential tools for detecting subtle motor decline before symptoms become severe. Finally, the research addresses the high economic burden of care and the importance of long-term monitoring for complications like cardiac conduction issues.