Oropharyngeal Dysphagia in Infants and Children with Infantile Pompe Disease

• Published in: Dysphagia Vol. 25; no. 4; pp. 277 - 283
• Main Authors: Jones, Harrison N., Muller, Carolyn W., Lin, Min, Banugaria, Suhrad G., Case, Laura E., Li, Jennifer S., O’Grady, Gwendolyn, Heller, James H., Kishnani, Priya S.
• Format: Journal Article
• Language: English
• Published: New York Springer-Verlag 01.12.2010; Springer; Springer Nature B.V
• Subjects: alpha-Glucosidases - metabolism; alpha-Glucosidases - therapeutic use; Children's furniture; Deglutition disorders; Deglutition Disorders - drug therapy; Deglutition Disorders - etiology; Deglutition Disorders - pathology; Disease Progression; Enzyme Replacement Therapy - methods; Enzymes; Female; Fluoroscopy; Gastroenterology; Glycogen Storage Disease Type I - complications; Glycogen Storage Disease Type I - drug therapy; Glycogen Storage Disease Type I - pathology; Glycogen Storage Disease Type II - complications; Glycogen Storage Disease Type II - drug therapy; Glycogen Storage Disease Type II - pathology; Health Status Indicators; Hepatology; Humans; Imaging; Infant; Male; Medicine; Medicine & Public Health; Mortality; Original Article; Otorhinolaryngology; Radiology; Retrospective Studies; Risk Factors; Severity of Illness Index; Statistics as Topic; Time Factors; Deglutition; Infantile Pompe disease; Aspiration; Enzyme replacement therapy; Acid maltase deficiency; Oropharyngeal dysphagia; Deglutition disorders; Glycogen storage disease type I

Pompe disease is a rare genetic progressive neuromuscular disorder. The most severe form, infantile Pompe disease, has historically resulted in early mortality, most commonly due to cardiorespiratory failure. Treatment with enzyme replacement therapy (ERT) using alglucosidase alfa (Myozyme ® ) has e...