A family with an early onset oculophryngeal muscular dystrophy

Oculopharyngeal muscular dystrophy (OPMD) is an adult - onset disease that is generally inherited as an autosomal dominant and rarely autosomal recessive trait. OPMD is caused by (GCG) repeated expansions in axon 1 of the poly (A) binding protein 2 gene (PABP2). Clinical manifestations of this disease may occur at, age 30 or later. It is characterized by ptosis and dysphagia resulting from severe dystrophic involvement of the levator palpebrae and pharyngeal muscles. In this article we described five members of a family with OPMD. The clinical onset age ranges between 7 and 35 in this family