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

From the Departments of Neurology (Drs. Kornblum, Klockgether, and Schöder) and Otorhinolaryngology (Drs. Broicher, Walther, Herberhold), University of Bonn; and the Department of Neurology (Dr. Seibel), University of Dresden, Germany.

Address correspondence and reprint requests to Dr. Rolf Schröder, Department of Neurology, University of Bonn, Sigmund-Freud-Strasse 25, 53105 Bonn, Germany; e-mail: myologie{at}mailer.meb.uni-bonn.de

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.