title: New motor outcome function measures in evaluation of late-onset Pompe disease before and after enzyme replacement therapy.
abstract: BACKGROUND
  The clinical course of late-onset Pompe disease is heterogeneous, and new clinical outcome measures are needed to evaluate enzyme replacement therapy (ERT).
  
  
  METHODS
  We correlated the 6-Minute Walk Test (6MWT), Walton and Gardner-Medwin (WGM) score, and GSGC (Gait, Stairs, Gower, Chair) scores in 40 patients.
  
  
  RESULTS
  At baseline, the GSGC score correlated with both WGM (P < 0.001, n = 33) and 6MWT (P < 0.001, n = 26). After 1 year of ERT, we observed a significant change in gait, stairs and chair performance on the GSGC scale. The 6MWT significantly increased from 319 to 371 meters in 32 patients, and the WGM score was reduced.
  
  
  CONCLUSIONS
  GSGC is a group of functional tests that requires only a few minutes to perform, therefore, this score might be a good indicator to be used in future studies.
authors.affiliation: University of Padova, Department of Neurosciences, Padova, Italy. corrado.angelini@unipd.it
authors.forename: Corrado
authors.initials: C
authors.lastname: Angelini
authors.forename: Claudio
authors.initials: C
authors.lastname: Semplicini
authors.forename: Sabrina
authors.initials: S
authors.lastname: Ravaglia
authors.forename: Maurizio
authors.initials: M
authors.lastname: Moggio
authors.forename: Giacomo P
authors.initials: GP
authors.lastname: Comi
authors.forename: Olimpia
authors.initials: O
authors.lastname: Musumeci
authors.forename: Elena
authors.initials: E
authors.lastname: Pegoraro
authors.forename: Paola
authors.initials: P
authors.lastname: Tonin
authors.forename: Massimiliano
authors.initials: M
authors.lastname: Filosto
authors.forename: Serenella
authors.initials: S
authors.lastname: Servidei
authors.forename: Lucia
authors.initials: L
authors.lastname: Morandi
authors.forename: Grazia
authors.initials: G
authors.lastname: Crescimanno
authors.forename: Giovanni
authors.initials: G
authors.lastname: Marrosu
authors.forename: Gabriele
authors.initials: G
authors.lastname: Siciliano
authors.forename: Tiziana
authors.initials: T
authors.lastname: Mongini
authors.forename: Antonio
authors.initials: A
authors.lastname: Toscano
mesh_terms: D000328:Adult; D017668:Age of Onset; D000368:Aged; D004185:Disability Evaluation; D056947:Enzyme Replacement Therapy; D005260:Female; D005500:Follow-Up Studies; D005684:Gait / Q000502:physiology; D006009:Glycogen Storage Disease Type II / Q000188:drug therapy* / Q000453:epidemiology* / Q000503:physiopathology; D006801:Humans; D008297:Male; D008875:Middle Aged; D009043:Motor Activity / Q000502:physiology*; D017063:Outcome Assessment, Health Care; D016896:Treatment Outcome; D016138:Walking / Q000502:physiology