Oropharyngeal Dysphagia in Infants and Children with Infantile Pompe Disease
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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 extended the lifespan of individuals with this disease. With the introduction of ERT and the resultant improved survival, dysphagia is being encountered clinically with increasing regularity though systematic data remain unavailable. We retrospectively studied the oropharyngeal swallowing of 13 infants and children with Pompe disease using videofluoroscopy before initiation of ERT, allowing for baseline swallow function to be established in an untreated cohort. Dysphagia was present in all 13 subjects, even in a participant only 15 days old. Oral stage signs were present in 77%, most frequently a weak suck in 69%. Pharyngeal stage signs were present in 100%, including a pharyngeal swallow delay in 92% and pharyngeal residue in 77%. Airway invasion was present in 76.9% of subjects, including penetration in five (38.46%) and silent aspiration in an additional five (38.46%). No relationship in the relative involvement of swallowing, gross motor function, and cardiac disease appeared to be present.
KeywordsInfantile Pompe disease Oropharyngeal dysphagia Aspiration Glycogen storage disease type I Acid maltase deficiency Enzyme replacement therapy Deglutition Deglutition disorders
We would like to thank the staff at the Duke Clinical Research Unit, Stephanie DeArmey, MHS, PA-C, and Joanne Mackey, RN, MSN, CPNP for the excellent care provided to these patients. This study was supported by grant RR024128 from the Duke Clinical Research Unit, National Center for Research Resources, National Institutes of Health.
LEC has received honoraria from Genzyme Corporation; has participated in research supported by Genzyme Corporation, PTC Therapeutics, the Leal Foundation, and Families of SMA; has been awarded grant support from the National Skeletal Muscle Research Center; and is a member of the Pompe Registry Board of Advisors. GOG has received honoraria from Genzyme Corporation for educational presentations related to hearing assessment in children. PSK has received research grant support and honoraria from Genzyme Corporation. PSK is a member of the Pompe Disease Registry Advisory Board for Genzyme Corporation. rhGAA, in the form of Genzyme’s product Myozyme®, has been approved by the US FDA and the European Union as therapy for Pompe disease. Duke University and inventors for the method of treatment and predecessors of the cell lines used to generate the enzyme (rhGAA) benefit financially pursuant to the University’s Policy on Inventions, Patents and Technology Transfer. HNJ, CWM, ML, SGB, JSL, and JAH have no conflicts of interest to report.
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