Oculopharyngeal muscular dystrophy | definition of oculopharyngeal muscular dystrophy by Medical dictionary
oculopharyngeal muscular dystrophy
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oculopharyngeal muscular dystrophy Abbreviation: OPMD
A rare form of muscular dystrophy in which muscles that control the eyelids and swallowing are primarily affected. Ptosis and dysphagia beginning in the patient's late 40s or early 50s are characteristic symptoms. Weakness in the limbs often follows. The disease occurs most often in French-Canadian or Hispanic kindreds.
Oculopharyngeal muscular dystrophy (OPMD)
This type of muscular dystrophy affects adults of both sexes, causing weakness in the eye muscles and throat.
References in periodicals archive
191[sup]st ENMC international workshop: Recent advances in oculopharyngeal muscular dystrophy
research: From bench to bedside 8-10 June 2012, Naarden, the Netherlands.
Rivera D, Mejia-Lopez H, Pompa-Mera EN, et al Two different PABPN1 expanded alleles in a Mexican population with oculopharyngeal muscular dystrophy
arising from independent founder effects.
Biotechnology company BioBlast Pharma (NasdaqGM:ORPN) reported on Monday the launch of a Phase 3 pivotal study of Cabaletta (trehalose) in Oculopharyngeal Muscular Dystrophy
(OPMD) in the US and Canada.