title: Should patients with asymptomatic pompe disease be treated? A nationwide study in France.
abstract: BACKGROUND
  Acid α-glucosidase deficiency, that is, Pompe disease, is a glycogenosis for which enzyme replacement therapy (ERT) is available. It is not known whether patients diagnosed at an asymptomatic stage should be treated to prevent progression of the disease.
  
  
  METHODS
  We investigated 7 patients with asymptomatic Pompe disease identified from the French Pompe registry.
  
  
  RESULTS
  The patients had a mean age of 45 (range 24-75) years, a median follow-up duration of 2 (range 1-22) years, and normal clinical examination, pulmonary function tests (PFTs), and echocardiography. All presented with at least 1 subclinical abnormality, including hyperCKemia, vacuolar myopathy, and muscle MRI abnormalities, suggesting that subclinical myopathy was present in all cases.
  
  
  CONCLUSIONS
  Asymptomatic Pompe disease may remain clinically silent for decades, and affected patients should be monitored closely for overt myopathy using clinical examination, PFTs, and muscle MRI to determine when to start ERT.
authors: Centre de Référence des Maladies Neuromusculaires, Département de Neurologie, Hôpital de Hautepierre 1, Avenue Molière, 67098, Strasbourg, France.
authors: Andoni
authors: A
authors: Echaniz-Laguna
authors: Assistance Publique-Hôpitaux de Paris (APHP), Service d'imagerie médicale, CIC-IT handicap, Hôpital Poincaré, Garches, France.
authors: Robert-Yves
authors: RY
authors: Carlier
authors: Centre de Référence Neuromusculaire Paris-Est, Hôpital Pitié-Salpêtrière, and U974, Université Pierre et Marie Curie, Paris, France.
authors: Kenza
authors: K
authors: Laloui
authors: Centre de Référence Neuromusculaire Paris-Est, Hôpital Pitié-Salpêtrière, and U974, Université Pierre et Marie Curie, Paris, France.
authors: Pierre
authors: P
authors: Carlier
authors: Centre de Référence des Maladies Neuromusculaires, Aix-Marseille Université, APHP, Marseille, France.
authors: Emmanuelle
authors: E
authors: Salort-Campana
authors: Centre de Référence des Maladies Neuromusculaires, Aix-Marseille Université, APHP, Marseille, France.
authors: Jean
authors: J
authors: Pouget
authors: Centre de Référence Neuromusculaire Paris-Est, Hôpital Pitié-Salpêtrière, and U974, Université Pierre et Marie Curie, Paris, France.
authors: Pascal
authors: P
authors: Laforet
mesh_terms: D000328:Adult; D000368:Aged; D015331:Cohort Studies; D003402:Creatine Kinase / Q000097:blood; D004562:Electrocardiography; D005260:Female; D005602:France / Q000453:epidemiology; D006009:Glycogen Storage Disease Type II / Q000150:complications / Q000175:diagnosis / Q000628:therapy*; D006801:Humans; D016464:Lysosomal Storage Diseases / Q000209:etiology; D008279:Magnetic Resonance Imaging; D008297:Male; D008875:Middle Aged; D009135:Muscular Diseases / Q000209:etiology; D012129:Respiratory Function Tests; D055815:Young Adult; D000520:alpha-Glucosidases / Q000235:genetics / Q000378:metabolism
chemical_list: D003402:Creatine Kinase; D000520:alpha-Glucosidases
keywords: Pompe disease; asymptomatic; enzyme replacement therapy; late-onset; myopathy; whole-body muscle MRI