한 가족에서의 안인두근 이양증에 의한 안검 하수증의 치험례

초록

Oculopharyngeal muscular dystrophy is a hereditary, autosomal dominant, slowly progressive disorder with middle age onset, major symptoms are ptosis and dysphagia mainly due to selectively involved levator palpebrae and the pharyngeal muscles. Progressive, usually symmetric blepharoptosis with or without dysphagia appears in middle age. Limb muscular weakness can be noted in some patients. This report describes 4 cases of oculopharyngeal muscular dystrophy in one family. All patients presented with slowly progressive bilateral ptosis and slight weakness of facial and bulbar muscles. The ptosis was severe in all cases at the time of surgery and levator resection was done via transcutaneous approach. The surgical result was satisfactory with all patients after 1 year follow-up.

키워드