title: Cricopharyngeal achalasia is a common cause of dysphagia in patients with mtDNA deletions.
abstract: To assess dysphagia, the authors examined 12 patients with Kearns-Sayre syndrome (KSS) or chronic progressive external ophthalmoplegia (CPEO) due to mitochondrial DNA (mtDNA) deletion by videofluoroscopy and manometry. Cricopharyngeal achalasia was documented in nine of 12 patients (75%), whereas deglutitive coordination problems were found in one patient. Cricopharyngeal myotomy may be an effective treatment in selected cases with severe cricopharyngeal obstruction.
authors.affiliation: Department of Neurology, University of Bonn, Germany.
authors.forename: C
authors.initials: C
authors.lastname: Kornblum
authors.forename: R
authors.initials: R
authors.lastname: Broicher
authors.forename: E
authors.initials: E
authors.lastname: Walther
authors.forename: P
authors.initials: P
authors.lastname: Seibel
authors.forename: H
authors.initials: H
authors.lastname: Reichmann
authors.forename: T
authors.initials: T
authors.lastname: Klockgether
authors.forename: C
authors.initials: C
authors.lastname: Herberhold
authors.forename: R
authors.initials: R
authors.lastname: Schröder
mesh_terms: D000328:Adult; D004272:DNA, Mitochondrial / Q000235:genetics; D003680:Deglutition Disorders / Q000209:etiology / Q000235:genetics* / Q000503:physiopathology*; D004931:Esophageal Achalasia / Q000235:genetics* / Q000503:physiopathology*; D004947:Esophagus / Q000473:pathology / Q000503:physiopathology*; D005260:Female; D017353:Gene Deletion; D006801:Humans; D008297:Male; D008875:Middle Aged; D017237:Mitochondrial Encephalomyopathies / Q000150:complications* / Q000235:genetics* / Q000503:physiopathology; D010609:Pharyngeal Muscles / Q000473:pathology / Q000503:physiopathology*
chemical_list: D004272:DNA, Mitochondrial