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Vol. 63. Issue 6.
Pages 482-484 (November - December 2012)
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Vol. 63. Issue 6.
Pages 482-484 (November - December 2012)
Case Study
DOI: 10.1016/j.otoeng.2012.11.012
Oculopharyngeal Muscular Dystrophy: A Case Report and Review of the Literature
Distrofia muscular óculo-faríngea: presentación de un caso y revisión de la literatura
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Elena Hernández-Montero??
Corresponding author
elehermon@hotmail.com

Corresponding author.
, Margarita Mesa-Marrero, Begoña de Frías-Berzosa, Pilar Rivas-Lacarte
Servicio de Otorrinolaringología, Hospital de San Lorenzo, Viladecans, Barcelona, Spain
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Abstract

Oculopharyngeal muscular dystrophy is an infrequent, not widely known entity. Of genetic origin, it usually shows up in the 5th or 6th decade of life. Most cases are referred directly to the gastroenterologist by their general practitioner and not to the otolaryngologist, so it is essential to be aware of this disease to suspect it. We report a case diagnosed and treated in our hospital and we review the literature.

Keywords:
Muscular dystrophy
Oculopharyngeal
Ptosis
Dysphagia
Resumen

La distrofia muscular óculo-faríngea es una entidad infrecuente y poco conocida, genéticamente determinada, que suele presentarse en la 5.a o 6.a década de la vida. Casi siempre estos pacientes son remitidos directamente al digestólogo desde su médico de familia y no con tanta frecuencia al otorrinolaringólogo, por lo que el conocimiento de esta enfermedad es fundamental para sospecharla. Presentamos un caso diagnosticado y tratado en nuestro hospital y revisamos la literatura al respecto.

Palabras clave:
Distrofia muscular
Óculo-faríngea
Ptosis
Disfagia

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