Effect of long term enzyme replacement therapy in late onset Pompe disease: a single-centre experience

Glycogen storage disease (GSD) type II (OMIM: 232300) or Pompe disease is a rare autosomal recessive disorder, caused by lysosomal acid alpha-glucosidase (GAA) deficiency with a varying clinical spectrum from a severe classical infantile-onset (IOPD) to a usually milder late-onset (LOPD) form [1-4]. IOPD is characterized by predominant cardiorespiratory involvement, hypotonia and severe muscle weakness with fatal outcome if remained untreated. On the contrary, LOPD, further subclassified into childhood, adolescent or even adult onset form, may be phenotypically heterogeneous with variable severity ranging from asymptomatic elevation of serum creatine kinase to severe proximal muscle weakness and respiratory impairment [1-7].

Source: Neuromuscular Disorders - December 5, 2020 Category: Neurology Authors: George K. Papadimas, Christoforos Anagnostopoulos, Sophia Xirou, Helen Michelakakis, Gerasimos Terzis, Irene Mavridou, Evangelia Kararizou, Constantinos Papadopoulos Source Type: research