Central drive and ventilatory failure in late-onset Pompe disease: At the gates of a new phenotype

Pompe disease (PD) is an infrequent metabolic autosomal recessive disorder produced by the lack or deficiency of the acid alpha-glucosidase lysosomal enzyme in tissues of involved individuals. Late-onset Pompe disease (LOPD) is a multisystem condition, with a heterogeneous clinical presentation that mimics other neuromuscular disorders (NMD) [1].

Source: Neuromuscular Disorders - March 20, 2019 Category: Neurology Authors: EL De Vito, SC Arce, SG Monteiro, GA Vaca Ruiz Source Type: research