Distrofia muscular oculofaríngea. Presentación de un caso particular e importancia de los hallazgos electromiográficos

Autor:	Antonio Díaz Negrillo
Rok vydání:	2016
Předmět:	medicine.medical_specialty Pediatrics business.industry General Engineering Genetic disorder Disease medicine.disease Clinical neurophysiology Dysphagia Oculopharyngeal muscular dystrophy Ptosis medicine Physical therapy medicine.symptom business Myopathy Pathological
Zdroj:	Acta Neurológica Colombiana. 32:67-71
ISSN:	2422-4022 0120-8748
DOI:	10.22379/2422402278
Popis:	Oculopharyngeal Muscular Dystrophy is a rare genetic disorder characterized clinically by ptosis and deglutition difficulties. This work aims to give a detailed description of a particular case highlighting the relevance of the electromyographic findings in addition to a comprehensive literature review on the topic. Clinical, neurophysiological and molecular study of 82 years old patient referred to Clinical Neurophysiology Unit for progressive bilateral ptosis and dysphagia. The electromyographic study aimed the existence of a facial myopathy prevalence and molecular study confirmed the existence of a pathological expansion of 12 repetitions in the poly-alanine tract PABPN1 gene. Conclusions: Oculopharyngeal Muscular Dystrophy is an underdiagnosed disease that may go unnoticed by simulating other pathological processes. A rigorous neurophysiological study is essential to conduct a suspected diagnosis and to guide further molecular diagnostics.
Databáze:	OpenAIRE
Externí odkaz:	https://explore.openaire.eu/search/publication?articleId=doi_________::88a8667f3d6038d302bec52ad9477d8d https://doi.org/10.22379/2422402278 Zobrazit plný text záznamu