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 sexmatched 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

Lung and respiratory muscle function in facioscapulohumeral muscular dystrophy

“…Furthermore, expiratory muscles contribute importantly to airway protection by compressing and expelling intrathoracic gas during cough. In our patients, documented expiratory muscle weakness did not impair the ability to clear airway secretions, e.g., in patients with oropharyngeal dysphagia, as assessed in our radiologic and manometric study of the pharynx and esophagus 24. Even if expiratory muscles are severely weakened, adequate flow rates can be generated if inspired volume and elastic recoil of the respiratory system are preserved 17.…”

Effects of weakness of orofacial muscles on swallowing and communication in FSHD

“…While studies report mild to moderate dysphagia or involvement of the tongue muscle in a subgroup of patients with FSHD, [5][6][7][8] to our knowledge, studies assessing the consequences of facial weakness on speech or communication have not been reported in FSHD. Here we performed a crosssectional 2-site study to obtain quantitative data on strength and fatigability of orofacial muscles in FSHD.…”

Rehabilitation in Muscular Dystrophies: Changing Approach

“…Patients are not always mentioning swallowing difficulties (Leonard 2001;Stubgen 2008). They should also always be carefully interviewed for symptoms of swallowing difficulties that may require a swallowing assessment and a careful observation of oral motor abilities during mealtime (Messina 2008;Manzur 2008).…”