Cricopharyngeal achalasia is a common cause of dysphagia in patients with mtDNA deletions

C Kornblum; R Broicher; E Walther; P Seibel; H Reichmann; T Klockgether; C Herberhold; R Schröder

doi:10.1212/wnl.56.10.1409

Cricopharyngeal achalasia is a common cause of dysphagia in patients with mtDNA deletions

Neurology. 2001 May 22;56(10):1409-12. doi: 10.1212/wnl.56.10.1409.

Authors

C Kornblum¹, R Broicher, E Walther, P Seibel, H Reichmann, T Klockgether, C Herberhold, R Schröder

Affiliation

¹ Department of Neurology, University of Bonn, Germany.

PMID: 11376201
DOI: 10.1212/wnl.56.10.1409

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.

MeSH terms

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

Substances

DNA, Mitochondrial