title: Highlighting intrafamilial clinical heterogeneity in late-onset Pompe disease.
abstract: OBJECTIVE
  Pompe disease is a rare metabolic disorder caused by deficiency of the lysosomal enzyme acid alpha-glycosidase (GAA). The late onset form of the disease is characterized by muscle weakness and respiratory involvement of variable severity. The aim of this short communication is to highlight the clinical variability of Pompe disease within siblings suffering from the disease.
  
  
  METHODS
  We report three pairs of siblings with late-onset Pompe disease presenting with different clinical phenotypes within the spectrum of disease phenotypes.
  
  
  CONCLUSIONS
  Clinical manifestations in Pompe disease within the same family can be very different. Clinicians should investigate patients' siblings for symptoms throughout the entire spectrum of the disease in order to avoid delays in the diagnosis and to pick-up mildly affected persons as early as possible, when they can benefit the most from enzyme replacement therapy.
authors.affiliation: Eginition Hospital, University of Athens, School of Medicine, Greece.
authors.forename: C
authors.initials: C
authors.lastname: Papadopoulos
authors.affiliation: Eginition Hospital, University of Athens, School of Medicine, Greece.
authors.forename: G K
authors.initials: GK
authors.lastname: Papadimas
authors.affiliation: Department of Enzymology and Cellular Function, Institute of Child Health, Athens, Greece.
authors.forename: H
authors.initials: H
authors.lastname: Michelakakis
authors.affiliation: Eginition Hospital, University of Athens, School of Medicine, Greece.
authors.forename: E
authors.initials: E
authors.lastname: Kararizou
authors.affiliation: Eginition Hospital, University of Athens, School of Medicine, Greece.
authors.forename: P
authors.initials: P
authors.lastname: Manta
keywords: Heterogeneity; Intrafamilial; Pompe disease