title: Improvement of dysphagia in a child affected by Pompe disease treated with enzyme replacement therapy.
abstract: OBJECTIVE
  Dysphagia is a known complication in Pompe Disease (PD), a severe metabolic myopathy due to alpha-glucosidase deficiency. Enzyme replacement therapy (ERT) with alglucosidase alfa is the only approved therapy for PD. Presently no data are available on the effects of ERT on dysphagia in PD patients. The aim of this work is to evaluate the course of this complication in a 6 years old boy affected by PD after treatment with ERT.
  
  
  METHODS
  Dysphagia was assessed by Videofluoroscopic Swallowing Study (VFSS) at baseline, before the start of ERT and after 36 months of therapy. We used the Dysphagia Severity Rating Scale (DSS) to define the severity grade of dysphagia.
  
  
  RESULTS
  VFSS performed at baseline revealed complete incoordination of oral stage swallowing which was classified as a grade 1 dysphagia according to DSS. After 36 months of treatment VFSS revealed normal swallowing, classified as grade 0 by DSS.
  
  
  CONCLUSIONS
  Our results suggest that ERT is effective in improving dysphagia. VFSS may be a useful tool to investigate and monitor swallowing disorders in patients affected by PD.
authors.forename: Simona
authors.initials: S
authors.lastname: Fecarotta
authors.forename: Serena
authors.initials: S
authors.lastname: Ascione
authors.forename: Giuseppe
authors.initials: G
authors.lastname: Montefusco
authors.forename: Roberto
authors.initials: R
authors.lastname: Della Casa
authors.forename: Paola
authors.initials: P
authors.lastname: Villari
authors.forename: Alfonso
authors.initials: A
authors.lastname: Romano
authors.forename: Ennio
authors.initials: E
authors.lastname: Del Giudice
authors.forename: Generoso
authors.initials: G
authors.lastname: Andria
authors.forename: Giancarlo
authors.initials: G
authors.lastname: Parenti
mesh_terms: D002648:Child; D003680:Deglutition Disorders / Q000188:drug therapy* / Q000209:etiology; D056947:Enzyme Replacement Therapy; D006009:Glycogen Storage Disease Type II / Q000150:complications / Q000188:drug therapy*; D006801:Humans; D008297:Male; D012720:Severity of Illness Index; D000520:alpha-Glucosidases / Q000627:therapeutic use*
chemical_list: C509951:GAA protein, human; D000520:alpha-Glucosidases