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Vol. 63. Issue 6.
Pages 465-469 (November - December 2012)
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Vol. 63. Issue 6.
Pages 465-469 (November - December 2012)
Brief communication
Cricopharyngeal Myotomy in the Treatment of Oculopharyngeal Muscular Dystrophy
Miotomía del cricofaríngeo en el tratamiento de la distrofia muscular oculofaríngea
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Antonio Gómez-Torresa,??
Corresponding author
gotoa83@hotmail.com

Corresponding author.
, Antonio Abrante Jiméneza, Eloy Rivas Infanteb, Alicia Menoyo Buenoa, Isabel Tirado Zamoraa, Francisco Esteban Ortegaa
a Unidad de Gestión Clínica de Otorrinolaringología, Hospital Universitario Virgen del Rocío, Sevilla, Spain
b Servicio de Anatomía Patológica, Hospital Universitario Virgen del Rocío, Sevilla, Spain
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Table 1. Clinical and Epidemiological Characteristics of the Patients.
Table 2. Results Obtained and Follow-up.
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Abstract

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.

Keywords:
Oculopharyngeal muscular dystrophy
Dysphagia
Treatment
Cricopharyngeal myotomy
Resumen

La distrofia muscular oculofaríngea (DMOF) es una enfermedad hereditaria autosómica dominante que causa disfagia orofaríngea, ptosis palpebral y debilidad muscular proximal. Es causada por una expresión anormal del triplete GCG del gen PABPN1, situado en el cromosoma 14. El estudio de la disfagia orofaríngea que sufren estos pacientes se basa en la historia clínica, la endoscopia digestiva alta, la radiología con contraste baritado y la manometría esofágica. El diagnóstico definitivo se confirma con el estudio genético. Presentamos 6 casos, 3 de ellos de una misma familia, remitidos a nuestro departamento con el diagnóstico confirmado de DMOF, los cuales se sometieron a una miotomía del cricofaríngeo para conseguir una deglución normal.

Palabras clave:
Distrofia muscular oculofaríngea
Disfagia
Tratamiento
Miotomía del cricofaríngeo

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