• 作者：Antonio Gó ; mez-Torres^a ; ^{gotoa83@hotmail.com} ; Antonio Abrante Jimé ; nez^a ; Eloy Rivas Infante^b ; Alicia Menoyo Bueno^a ; Isabel Tirado Zamora^a ; Francisco Esteban Ortega^a
• 关键词：Distrofia muscular oculofarí ; ngea ; Disfagia ; Tratamiento ; Miotomí ; a del cricofarí ; ngeo
• 刊名：Acta Otorrinolaringol¨®gica Espa?ola
• 出版年：2012
• 出版时间：November-December, 2012
• 年：2012
• 卷：63
• 期：6
• 页码：465-469
• 全文大小：1621 K

Oculopharyngeal muscular dystrophy (OPMD) is an autosomal dominant myopathic disease which provokes oropharyngeal dysphagia, palpabral ptosis and proximal limb weakness. It is the abnormal expression of the GCG triplet in the PABPN1 gene on chromosome 14 that causes this disease. The study of the oropharyngeal dysphagia that these patients suffer from should include upper gastrointestinal endoscopy, barium video-radiology and oesophageal manometry. Genetic study confirms the diagnosis. We report 6 patients (3 of whom were siblings) referred to our department with a confirmed diagnosis of OPMD, who underwent cricopharyngeal myotomy to achieve normal swallowing.