Oculopharyngeal muscular dystrophy (OPMD)

Six OPMD families (one of five generations) confirm that the disease is autosomal dominant; mapping on chromosome 14 has been described. There is obvious anticipation of the cardinal symptoms ptosis and dysphagia. Hutchinson face is a hallmark of chronic progressive external ophthalmoplegia (CPEO), the correct diagnosis of which relies on careful history-taking and histopathology of a girdle muscle showing the rimmed vacuoles and the specific intranuclear filaments. Diet, fluid food, and early swallowing training is advised, as is the easy, hardly invasive Guyton-Friedenwald surgery for ptosis, which is adaptable during the evolution of the disease.