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

Abstract

Limb girdle muscular dystrophy (LGMD) is not a recognized cause of dysphagia. However, a systematic study of pharyngoesophageal function in LGMD has not been performed or reported. We determined whether the dystrophic process involves the pharyngoesophageal musculature in 20 LGMD patients with and without complaints of deglutition. Pharyngeal and esophageal function was evaluated by conventional cineradiography and manometry. Abnormalities were demonstrated in 30% (6/20) of patients: dysphagia in 10% (2/20), an abnormal radiologic study in 30% (6/20), and an abnormal manometric study in 20% (4/20). Mean manometric pressures were not significantly different when patients were compared with a healthy, age- and sex-matched volunteer group. In 2 patients, dysfunction of the pharyngeal striated muscle was likely, or possibly, due to dystrophic affection of the upper alimentary tract. Significant upper alimentary tract dysfunction in LGMD is not common. The cause-effect relationship between the dystrophic process and the nonspecific pharyngoesophageal motility disorders is unclear and requires pathologic study.