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Oropharyngeal dysphagia may occur in late-onset Pompe disease, implicating bulbar muscle involvement.
MedLine Citation:
PMID:  23332114     Owner:  NLM     Status:  Publisher    
Abstract/OtherAbstract:
Late-onset Pompe disease (presenting after 12 months of age) often presents with limb-girdle and respiratory weakness, but oropharyngeal dysphagia has not been reported previously. A retrospective review of all late-onset Pompe disease patients evaluated in the neuromuscular clinic at Duke University Medical Center from 1999-2010 was performed. Twelve patients were identified and 3 had symptoms of oropharyngeal dysphagia. The medical record was reviewed, including the results of electromyography, videofluroscopic swallow examinations, and motor speech examination including instrumental assessment of lingual force with the Iowa Oral Performance Instrument. Oropharyngeal dysphagia was mild in two cases and severe in one. One of the two patients with mild severity demonstrated oral stage swallow signs; in the other, residual material was observed in the area of the cervical esophagus. In the patient with severe oropharyngeal dysphagia, both the oral and pharyngeal stages of swallowing were affected with penetration and aspiration documented. The degree of swallowing impairment appeared to correlate with overall physical strength and function. Oropharyngeal dysphagia may occur in patients with late-onset Pompe disease, implicating bulbar muscle involvement. Screening for symptoms of dysphagia may help reduce morbidity and mortality, while improving understanding of the late-onset Pompe disease phenotype. Further studies, including examination of the relationship between lingual weakness and oropharyngeal dysphagia, are warranted.
Authors:
Lisa D Hobson-Webb; Harrison N Jones; Priya S Kishnani
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Publication Detail:
Type:  JOURNAL ARTICLE     Date:  2013-1-15
Journal Detail:
Title:  Neuromuscular disorders : NMD     Volume:  -     ISSN:  1873-2364     ISO Abbreviation:  Neuromuscul. Disord.     Publication Date:  2013 Jan 
Date Detail:
Created Date:  2013-1-21     Completed Date:  -     Revised Date:  -    
Medline Journal Info:
Nlm Unique ID:  9111470     Medline TA:  Neuromuscul Disord     Country:  -    
Other Details:
Languages:  ENG     Pagination:  -     Citation Subset:  -    
Copyright Information:
Copyright © 2012. Published by Elsevier B.V.
Affiliation:
Duke University Department of Medicine/Division of Neurology, United States. Electronic address: lisa.hobsonwebb@duke.edu.
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