Cricopharyngeal achalasia is a common cause of dysphagia in patients with mtDNA deletions.
case_series · Level IV
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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.
Medical subject headings
- Deglutition Disorders
- Esophageal Achalasia
- Esophagus
- Mitochondrial Encephalomyopathies
- Pharyngeal Muscles