Cricopharyngeal myotomy in the treatment of oculopharyngeal muscular dystrophy.
Acta Otorrinolaringol Esp
; 63(6): 465-9, 2012.
Article
em En, Es
| MEDLINE
| ID: mdl-22898142
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.
Texto completo:
1
Base de dados:
MEDLINE
Assunto principal:
Músculos Faríngeos
/
Distrofia Muscular Oculofaríngea
Tipo de estudo:
Observational_studies
Limite:
Aged
/
Female
/
Humans
/
Male
/
Middle aged
Idioma:
En
/
Es
Revista:
Acta Otorrinolaringol Esp
Ano de publicação:
2012
Tipo de documento:
Article