Pharyngo-esophageal motility disturbances in patients with myotonic dystrophy

Background: Esophageal motility is often disturbed in patients with myotoni c dystrophy. The esophageal motor derangement pattern and its correlation w ith esophageal and peripheral motor symptoms is not well defined. Our aims were to evaluate: 1) pharyngo-esophageal motor abnormalities in these patie nts; 2) the relationship between motor involvement and clinical manifestati ons; and 3) the correlation between pharyngo-esophageal motility abnormalit ies and peripheral neuromuscular involvement. Methods: We compared data fro m 18 patients and 18 healthy controls. Neuromuscular affectation was quanti fied with a five-point muscular disability rating scale. Pharyngo-esophagea l symptoms were assessed with a directed questionnaire, whereas motility wa s evaluated by means of manometry. Results: Myotonic dystrophy patients had diminished pharyngeal contraction amplitude, upper esophageal sphincter ba sal pressure, and esophageal body contraction amplitude compared with the c ontrol group (P < 0.001). No signs of esophageal myotony were evident. Simu ltaneous esophageal waves after more than 40% of liquid swallows were found in 80% of patients. No relationship between esophageal manometric alterati on and esophageal or peripheral motility symptoms was elicited. Conclusion: In patients with myotonic dystrophy pharyngo-esophageal motility is severe ly deranged in both amplitude and coordination. These abnormalities may be present even if symptoms referred by the patient or the severity of the dis ease is not remarkable.