title: Challenges in diagnosis and treatment of late-onset Pompe disease.
abstract: OBJECTIVE
  The first reports published in 2010 on enzyme replacement therapy in late-onset Pompe disease (LOPD) allow us now to stand back and adapt the strategies. In the meantime, substantial progress has been made in basic and applied research on animal models to enhance the efficacy of treatments. This brief review highlights the new concepts in a contemporary approach.
  
  
  RESULTS
  Interest in LOPD rose since its acknowledgement as a treatable myopathy. New insights from extensive analysis of injurious mechanisms resulted, over the past years, in the development of enzyme replacement therapy and a better understanding of its limits.
  
  
  CONCLUSIONS
  It seems reasonable to consider Pompe disease as a large spectrum of a single ubiquitous lysosomal disease resulting from an enzyme defect, more severe in newborns because of rapid cardiopulmonary and hepatic failures, with a much better prognosis when symptomatic after 12 months. This late-onset form demands therapy to avoid progressive motor disability and pulmonary insufficiency. Diagnosis is easy to confirm through rapid and reliable biochemical tests with sampling of blood dots on filter paper. When started early, treatment would avoid serious irrevocable damage to cells. Increasing precocity of diagnosis and efficacy of treatments are the core challenges for the next few years.
authors: Reference Centre for Neuromuscular Diseases, Department of Neurology, University Hospital of Nice and UMR CNRS/UNSA 6543, France. desnuelle.c@chu-nice.fr
authors: Claude
authors: C
authors: Desnuelle
authors: Leonardo
authors: L
authors: Salviati
mesh_terms: D017668:Age of Onset; D000818:Animals; D004195:Disease Models, Animal; D056947:Enzyme Replacement Therapy / Q000639:trends; D006009:Glycogen Storage Disease Type II / Q000175:diagnosis* / Q000378:metabolism / Q000628:therapy; D006801:Humans; D000520:alpha-Glucosidases / Q000378:metabolism
chemical_list: D000520:alpha-Glucosidases