Hypertonic upper esophageal sphincter in the oculopharyngeal syndrome

The oculopharyngeal syndrome (OPS) is a rare variant of muscular dystrophy characterized by progressive ptosis and dysphagia. Previous esophageal motility studies in OPS have yielded conflicting results because of low-fidelity esophageal recording systems. Although cricopharyngeal myotomy improves symptoms, accurate postoperative manometric findings have not been reported. Using a low-compliance, high-fidelity system and a radially oriented esophageal motility catheter in an OPS patient we found a hypertonic upper esophageal sphincter (UES), a hypotonic proximal esophagus, and elevated pressures in the distal two-thirds with prolonged duration of contraction. Clinical improvement followed myotomy. We also found a similar manometric pattern but a normotensive UES in an asymptomatic sibling.