Facioscapulohumeral muscular dystrophy : a radiologic and manometric study of the pharynx and esophagus

Abstract

Facioscapulohumeral muscular dystrophy (FSHD) is not a recognized neuromuscular cause of dysphagia. However, a study of pharyngoesophageal function in FSHD has not been performed or reported. The aim of this study was to ascertain by relatively noninvasive techniques whether the dystrophic muscle disease that underlies FSHD involves the pharyngeal and/or the esophageal striated and smooth muscles. We used conventional cineradiography and intraluminal esophageal manometry on separate occasions to study pharyngeal and esophageal function in 20 patients with FSHD at various stages of disease, with or without complaints of deglutition. Age- and sex-matched control data were used for comparison of the manometric component of the study. Twelve men and eight women with FSHD were studied. The mean patient age was 38.1 years (41.9 years for controls), and the age range was 19–61 years (22–55 years for controls). The mean disease duration was 16.7 years (range = 4–39 years).Five patients admitted to having intermittent oropharyngeal dysphagia (difficulty to initiate swallowing, cough after swallowing, sensation of food stuck in throat, or nasal regurgitation), and three patients admitted to intermittent esophageal dysphagia (difficulty swallowing both liquids and solids). Chest roentgengrams showed a hiatal hernia in four patients, but no active cardiopulmonary disease. Abnormal instrumental results were documented in eight patients: Cineradiography detected ineffectual pharyngeal contractions (2 patients), pharyngeal diverticula but normal pharyngeal motility (2 patients), and decreased cricopharyngeal and upper esophageal relaxation (2 patients). The mean manometric pressure of the patient group was not significantly different from the control data. However, manometry detected motility abnormalities that were not reflected in the mean data and included increased lower esophageal sphincter resting pressure with normal or abnormal relaxation (2 patients) and inconsistent, high-amplitude, long–duration, primary peristaltic contractions (1 patient). Patients with FSHD did not spontaneously volunteer intermittent complaints of deglutition. This study did not definitely establish that the cause of abnormal pharyngeal and cervical esophageal function was related to the dystrophic process that underlies FSHD. Any esophageal dysmotility was nonspecific and insignificant and was caused by an undetermined, probably neuropathic, process unrelated to the muscular dystrophy.