Improvement of dysphagia in a child affected by Pompe disease treated with enzyme replacement therapy.

ABSTRACT:

Aim

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 clas

SUBMITTER: Fecarotta S 

PROVIDER: S-EPMC3667015 | biostudies-literature | 2013 May

REPOSITORIES: biostudies-literature