ESOPHAGEAL SMOOTH-MUSCLE DYSFUNCTION IN OCULOPHARYNGEAL MUSCULAR-DYSTROPHY

Oculopharyngeal muscular dystrophy (OPMD) is a rare genetic disorder w ith late-onset progressive myopathy affecting mainly head and neck str iated muscles. It is more common in certain ethnic communities. Dyspha gia was usually attributed to the malfunction of striated pharyngeal m uscles. We studied a group of Bukharan immigrants affected by this dis order (N = 13). Esophageal studies, including endoscopy, manometry, an d scintigraphic emptying were performed. Very low pharyngeal pressures were measured. Upper esophageal pressures (UEP) were in the normal ra nge in eight patients, and above normal in three patients. Four also h ad low lower esophageal sphincter pressure. Esophageal body peristalti c activity was grossly impaired in all. patients: mainly nonpropulsive , simultaneous, retrograde, and failed activity was recorded. Marked r etention of isotopic material was demonstrated in all patients studied , usually in the middle and lower parts of the body, ranging from 17 t o 100% retention. The dysphagia in OPMD is due not-only to dysfunction of pharyngeal and upper esophageal striated muscle, but also has a si gnificant smooth muscle component.