Pompe disease is a progressive, life-threatening genetic neuromuscular disorder. Late-onset Pompe disease (LOPD), affecting individuals over one year old, leads to trunk and proximal muscle weakness, often impacting…
Sandra, diagnosed with late-onset Pompe disease, shares her journey of resilience and determination. Despite experiencing symptoms like muscle weakness and difficulty with daily activities since her 30s, she…
Paula Hernández-Arévalo, of Hospital Universitario Virgen del Rocío, Seville, Spain, and colleagues identified 4 new pathogenic variants of #Pompe disease.
