Cricopharyngeal myotomy in the treatment of oculopharyngeal muscular dystrophy.
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.
Unidad de Gestión Clínica de Otorrinolaringología, Hospital Universitario Virgen del Rocío, Sevilla, España. gotoa83@hotmail.com
Antonio
A
Gómez-Torres
Antonio
A
Abrante Jiménez
Eloy
E
Rivas Infante
Alicia
A
Menoyo Bueno
Isabel
I
Tirado Zamora
Francisco
F
Esteban Ortega
D000368:Aged; D003413:Cricoid Cartilage; D005260:Female; D006801:Humans; D008297:Male; D008875:Middle Aged; D039141:Muscular Dystrophy, Oculopharyngeal / Q000601:surgery*; D010609:Pharyngeal Muscles / Q000601:surgery*; D011446:Prospective Studies