Esophageal motor function in patients with myotonic dystrophy

To investigate pharyngeal and esophageal motor function in myotonic dystrophy (MD), and its relationship to esophageal symptoms, we used low-compliance, high-fidelity esophageal manometry and videofluorography to evaluate 14 consecutive MD patients. Patients exhibited a consistent, typical motor pattern, involving a marked reduction in resting tone of both the upper and lower esophageal sphincters, and a reduction in contraction pressure in the pharynx and throughout the esophagus, Radiology showed hypotonic pharynx with stasis and a hypo- or amotile, often dilated, esophagus. These findings were nonspecific, however, being present in patients both with and without dysphagia, which suggests that MD patients have valid compensatory mechanisms. Dysphagia only correlated to the pharyngeal impairment at manometry. Furthermore, the results of our study suggest that not only the proximal, striated part of the gullet, but also the distal part (in which smooth muscle dominates) is involved in the disease. The latter leads to the impairment of the LES resting tone and competence, highlighting the risk of gastroesophageal reflux disease in these patients.