Oropharyngeal dysphagia in infants and children with infantile Pompe disease.

摘要: Pompe disease is a rare genetic progressive neuromuscular disorder. The most severe form, infantile disease, has historically resulted in early mortality, commonly due to cardiorespiratory failure. Treatment with enzyme replacement therapy (ERT) using alglucosidase alfa (Myozyme®) extended the lifespan of individuals this disease. With introduction ERT and resultant improved survival, dysphagia being encountered clinically increasing regularity though systematic data remain unavailable. We retrospectively studied oropharyngeal swallowing 13 infants children videofluoroscopy before initiation ERT, allowing for baseline swallow function be established an untreated cohort. Dysphagia was present all subjects, even participant only 15 days old. Oral stage signs were 77%, frequently weak suck 69%. Pharyngeal 100%, including pharyngeal delay 92% residue 77%. Airway invasion 76.9% penetration five (38.46%) silent aspiration additional (38.46%). No relationship relative involvement swallowing, gross motor function, cardiac appeared present.