FP1638 : Oculopharyngeal muscular dystrophy: A disease so inimical yet so poorly diagnosed

Dr.Bijnya Birajita Panda, P12215

OPMD Is a rare autosomal dominant genetic disorder which progressively affect muscles of the eyelid and the throat. We wish to highlight a case of a 45 year old male without any medical risk factor and insignificant family history presented to us with complaints of progressive aquired bilateral severe ptosis (RE>LE) ,external ophthalmoplegia for a duration of 5 years .Symptoms and signs were negative for ocular myasthenia, cranial nerve palsy and aponeurotic ptosis. He also complained of painful deglutition, nasal intonation of voice and generalized body weakness during this period.Based on clinical findings, a diagnosis of OPMD was made and we proceeded with genetic analysis for PABPN1 gene mutation. ptosis was managed conservatively with crutch glasses in view of poor bell’s phenomenon. Further referral was done to head and neck surgeon for urgent management of dysphagia which could prove to be a catastrophe if not treated early.