Emerging and Established Biomarkers of Oculopharyngeal Muscular Dystrophy

Oculopharyngeal muscular dystrophy (OPMD) is a rare, late onset muscular dystrophy. Autosomal dominant inheritance is typical, but recessive cases have been documented [1 –3]. Common symptoms at onset include ptosis and/or dysphagia [4], with proximal weakness developing later [5]. There is considerable variability in age of symptom onset, even within a family [6–9]. Although there are several potential treatments under investigation, currently, there are no appr oved disease-modifying therapies. Interventions such as levator palpebrae tendon resection or sling surgeries for ptosis lead to prolonged benefit [10–12].

Source: Neuromuscular Disorders - October 6, 2023 Category: Neurology Authors: Ian C. Smith, Shaoni Chakraborty, Pierre R. Bourque, Marcos L. Sampaio, Gerd Melkus, Hanns Lochm üller, John Woulfe, Robin J. Parks, Bernard Brais, Jodi Warman-Chardon Tags: Review Source Type: research