Pompe disease: clinical clues for suspicion and early identification

Pompe disease is a rare, progressive neuromuscular disorder that often goes unrecognized in clinical practice due to its heterogeneous presentation and its overlap with rheumatological conditions. This course provides a practical review of its pathophysiological basis, clinical spectrum, and the key features that should raise diagnostic suspicion, with a particular focus on late-onset forms. The course aims to help rheumatologists identify the signs and symptoms that may suggest Pompe disease and facilitate the early referral of patients. Through a practical approach and real-world clinical cases, participants will review the most relevant clinical manifestations and the basic tools available to support screening and early diagnosis, ultimately helping to reduce diagnostic delays and improve patient outcomes. This project was sponsored by Astellas Pharma Inc. This course is an independent scientific work by the authors. The sponsor had no input in the development, content, or decision to publish this course. This course was developed by the experts Dr. Javier García, Dr. Cristina Domínguez, Prof. Dr. Xenofon Baraliakos, and Prof. Dr. Tim Hagenacker, who are the authors of the educational content. In this edition, the course is delivered by Dr. Domínguez and Dr. García.