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: C Kornblum, R Broicher, E Walther, P Seibel, H Reichmann, T Klockgether, C Herberhold, R Schröder
• Journal: Neurology (Neurology) Vol. 56 Issue 10 Pg. 1409-12 (May 22 2001) ISSN: 0028-3878 [Print] United States
• PMID: 11376201 (Publication Type: Journal Article)

Chemical References

• DNA, Mitochondrial

Topics

• Adult
• DNA, Mitochondrial (genetics)
• Deglutition Disorders (etiology, genetics, physiopathology)
• Esophageal Achalasia (genetics, physiopathology)
• Esophagus (pathology, physiopathology)
• Female
• Gene Deletion
• Humans
• Male
• Middle Aged
• Mitochondrial Encephalomyopathies (complications, genetics, physiopathology)
• Pharyngeal Muscles (pathology, physiopathology)