Oculopharyngeal muscular dystrophy (OPMD) is a rare neuromuscular disorder characterized by late-onset development of bilateral eyelid ptosis, ophthalmoparesis and dysphagia with further progression to proximal limb muscle weakness that is an under recognized condition. The mode of inheritance is usually autosomal dominant, but a recessive form has been reported. OPMD is caused by a short expansion of the alanine repeat (GCN trinucleotide) in the poly(adenylate)-binding protein nuclear1 (PABPN1) gene.
We performed a retrospective review of undiagnosed cases that initially presented with ptosis, diplopia, dysphagia, muscle weakness, muscular dystrophy and/or myasthenia gravis from 2000 to 2015 at two institutions in Southern California.
Twenty-five patients were identified to have OPMD with genetic confirmation.
Even though a rare condition, the prevalence is disproportionally frequent in certain ethnic groups and in certain regions; thus, we report our experience of OPMD patients in Southern California.