CT and Video Fluoroscopic Head and Neck Manifestations in Oculopharyngeal Muscular Dystrophy

Oculopharyngeal muscular dystrophy is a rare, inherited myopathy primarily characterized by progressive ptosis, dysphagia, and proximal muscle weakness. The genetics of oculopharyngeal muscular dystrophy have been thoroughly investigated in the literature, which has led to molecular genetic testing being the criterion for diagnosis. Imaging manifestations of the disease, on CT and MR images, have been described in the literature as variable degrees of fatty replacement of various abdominal and pelvic muscles. However, only limited and dated reports have been published in regard to head and neck manifestations of the disease. What follows is a case report of oculopharyngeal muscular dystrophy that focused on fluoroscopy and CT manifestations in the head and neck, and the potential implications in oculopharyngeal muscular dystrophy diagnosis.