Abstract
Oculopharyngeal muscular dystrophy (OPMD) is a late-onset intractable myopathy, characterized by slowly progressive ptosis, dysphagia, and proximal limb weakness. It is caused by the abnormal expansion of the alanine-encoding (GCN)n trinucleotide repeat in the exon 1 of the polyadenosine (poly[A]) binding protein nuclear 1 gene (11–18 repeats in OPMD instead of the normal 10 repeats). As the disease progresses, the patients gradually develop a feeling of suffocation, regurgitation of food, and aspiration pneumonia, although the initial symptoms and the progression patterns vary among the patients. Autologous myoblast transplantation may provide therapeutic benefits by reducing swallowing problems in these patients. Therefore, it is important to assemble information on such patients for the introduction of effective treatments in nonendemic areas. Herein, we present a concise review of recent progress in clinical and pathological studies of OPMD and introduce an idea for setting up a nation-wide OPMD disease registry in Japan. Since it is important to understand patients’ unmet medical needs, realize therapeutically targetable symptoms, and identify indices of therapeutic efficacy, our attempt to establish a unique patient registry of OPMD will be a helpful tool to address these urgent issues.
Highlights
Oculopharyngeal muscular dystrophy (OPMD) is a late-onset intractable myopathy, characterized by slowly progressive ptosis, dysphagia, and proximal limb weakness
OPMD is a rare form of muscular dystrophy, whose prevalence remains unknown in the non-endemic areas including Japan
We present recent advances in OPMD research and introduce an idea for the setup of a nation-wide OPMD disease registry in Japan
Summary
Oculopharyngeal muscular dystrophy (OPMD), a late-onset myopathy, is characterized by slowly progressive ptosis, dysphagia, and proximal limb weakness. OPMD is a rare form of muscular dystrophy, whose prevalence remains unknown in the non-endemic areas including Japan. According to the details available on the website ClinicalTrials.gov [2], 12 clinical studies on OPMD are ongoing at the moment. The outcome of a few of these studies may provide therapeutic benefits in alleviating the swallowing problems in these patients. There is an urgent need to assemble information regarding OPMD patients for the introduction of such effective treatment strategies. We present recent advances in OPMD research and introduce an idea for the setup of a nation-wide OPMD disease registry in Japan. Publisher’s Note: MDPI stays neutral with regard to jurisdictional claims in published maps and institutional affiliations
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