title: The emerging phenotype of late-onset Pompe disease: A systematic literature review.
abstract: Pompe disease is an autosomal recessive disorder caused by deficiency of the lysosomal glycogen-hydrolyzing enzyme acid α-glucosidase (GAA). The adult-onset form, late-onset Pompe disease (LOPD), has been characterized by glycogen accumulation primarily in skeletal, cardiac, and smooth muscles, causing weakness of the proximal limb girdle and respiratory muscles. However, increased scientific study of LOPD continues to enhance understanding of an evolving phenotype.
  
  
  
  To expand our understanding of the evolving phenotype of LOPD since the approval of enzyme replacement therapy (ERT) with alglucosidase alfa (Myozyme™/Lumizyme™) in 2006.
  
  
  
  All articles were included in the review that provided data on the charactertistics of LOPD identified via the PubMed database published since the approval of ERT in 2006. All signs and symptoms of the disease that were reported in the literature were identified and included in the review.
  
  
  
  We provide a comprehensive review of the evolving phenotype of LOPD. Our findings support and extend the knowledge of the multisystemic nature of the disease.
  
  
  
  With the advent of ERT and the concurrent increase in the scientific study of LOPD, the condition once primarily conceptualized as a limb-girdle muscle disease with prominent respiratory involvement is increasingly recognized to be a condition that results in signs and symptoms across body systems and structures.
authors.affiliation: Division of Medical Genetics, Department of Pediatrics, Duke University Medical Center, Durham, NC, USA.
authors.forename: Justin
authors.initials: J
authors.lastname: Chan
authors.affiliation: Division of Medical Genetics, Department of Pediatrics, Duke University Medical Center, Durham, NC, USA.
authors.forename: Ankit K
authors.initials: AK
authors.lastname: Desai
authors.affiliation: Division of Medical Genetics, Department of Pediatrics, Duke University Medical Center, Durham, NC, USA.
authors.forename: Zoheb B
authors.initials: ZB
authors.lastname: Kazi
authors.affiliation: Division of Medical Genetics, Department of Pediatrics, Duke University Medical Center, Durham, NC, USA.
authors.forename: Kaitlyn
authors.initials: K
authors.lastname: Corey
authors.affiliation: Division of Medical Genetics, Department of Pediatrics, Duke University Medical Center, Durham, NC, USA.
authors.forename: Stephanie
authors.initials: S
authors.lastname: Austin
authors.affiliation: Department of Neurology, Division of Neuromuscular Medicine, Duke University Medical Center, Durham, NC, USA.
authors.forename: Lisa D
authors.initials: LD
authors.lastname: Hobson-Webb
authors.affiliation: Doctor of Physical Therapy Division, Department of Orthopedics, Duke University School of Medicine, Duke University, Durham, NC, USA.
authors.forename: Laura E
authors.initials: LE
authors.lastname: Case
authors.affiliation: Department of Surgery, Division of Head and Neck Surgery & Communication Sciences, Duke University, Durham, NC, USA.
authors.forename: Harrison N
authors.initials: HN
authors.lastname: Jones
authors.affiliation: Division of Medical Genetics, Department of Pediatrics, Duke University Medical Center, Durham, NC, USA. Electronic address: jchan532@gmail.com.
authors.forename: Priya S
authors.initials: PS
authors.lastname: Kishnani
mesh_terms: D000328:Adult; D017668:Age of Onset; D056947:Enzyme Replacement Therapy / Q000379:methods; D005260:Female; D006009:Glycogen Storage Disease Type II / Q000188:drug therapy* / Q000473:pathology*; D006801:Humans; D008297:Male; D010641:Phenotype; D012132:Respiratory Muscles / Q000187:drug effects / Q000473:pathology*; D016896:Treatment Outcome; D000520:alpha-Glucosidases / Q000494:pharmacology / Q000627:therapeutic use*
chemical_list: C509951:GAA protein, human; D000520:alpha-Glucosidases
keywords: Glycogen storage disease type II; Late-onset Pompe disease; Multisystem disease; Natural history; Pompe disease