The nature of respiratory muscle weakness in patients with late-onset-Pompe disease

The nature of respiratory muscle weakness in patients with late-onset-Pompe disease, Late-onset Pompe disease (LOPD) is an autosomal-recessive lysosomal storage disease caused by deficiency of the α-1,4-glucosidase enzyme [1]. This causes accumulation of glycogen in various tissues but mainly in skeletal muscle, leading to myofibrillar dysfunction, muscle atrophy and lipodystrophic changes [1]., Late-onset Pompe disease (LOPD) is an autosomal-recessive lysosomal storage disease caused by deficiency of the α-1,4-glucosidase enzyme [1]. This causes accumulation of glycogen in various tissues but mainly in skeletal muscle, leading to myofibrillar dysfunction, muscle atrophy and lipodystrophic changes [1]. Clinical hallmarks of the condition include a limb-girdle pattern of muscle weakness and respiratory muscle dysfunction, both resulting in functional disability and reduced life span [2–5]., admin,