Cricopharyngeal achalasia is a common cause of dysphagia in patients with mtDNA deletions.
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.
Kornblum
C
C
Department of Neurology, University of Bonn, Germany.
Broicher
R
R
Walther
E
E
Seibel
P
P
Reichmann
H
H
Klockgether
T
T
Herberhold
C
C
Schröder
R
R
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*
D004272:DNA, Mitochondrial