The Evolving Landscape of Late-Onset Pompe Disease Management
Late-onset Pompe disease (LOPD) represents a complex clinical challenge in the field of neuromuscular medicine. As an autosomal recessive metabolic disorder caused by a deficiency of the lysosomal enzyme acid alpha-glucosidase (GAA), it leads to the progressive accumulation of glycogen in cardiac, smooth, and skeletal muscles. While enzyme replacement therapy (ERT) has significantly altered the natural history of the disease, patients continue to experience a slow but relentless decline in motor function, characterized by proximal muscle weakness, respiratory insufficiency, and gait instability.
For the clinician, the primary difficulty lies in the quantification of this progression. Traditional tools, such as manual muscle testing (MMT), often lack the sensitivity to detect subtle changes over short clinical intervals. A recent landmark study by Maulet et al., published in Neurology, provides a much-needed longitudinal perspective on motor function changes in adults with LOPD, identifying specific biomarkers and clinical thresholds that could redefine how we monitor these patients in practice.
