The pharynx and esophagus in ocular muscular dystrophy

Abstract

Of 26 patients with ocular muscular dystrophy seen 9 (35%) had dysphagia. Esophageal motility studies demonstrated severe abnormalities in 5 of the 17 patients available for study and were slightly abnormal in 6 other patients who were without symptoms referable to the pharynx or esophagus. The abnormalities of pharyngeal and esophageal function demonstrated by motility and radiographic studies indicated that the dysphagia was due to a combination of inadequate and incoordinate muscle contraction, including the sphincters, from the pharynx to the lower esophagus, suggesting that the dystrophic process involved striated pharyngeal and smooth esophageal muscle. Neuropa-thological data available in 1 patient confirmed dystrophy of the striated pharyngeal muscle, but not of the esophageal smooth muscle. The involvement of the striated muscles of swallowing sufficient to cause dysphagia was associated with evidence of widespread involvement of other skeletal muscles, apparently reflecting the severity of expression of the gene in the individual rather than any more specific variant of the dystrophy.