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Review
. 2021 Mar 29;10(7):1375.
doi: 10.3390/jcm10071375.

Recent Progress in Oculopharyngeal Muscular Dystrophy

Satoshi Yamashita  1
Affiliations
Review

Recent Progress in Oculopharyngeal Muscular Dystrophy

Satoshi Yamashita. J Clin Med. .

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.

Keywords: clinical characteristics; oculopharyngeal muscular dystrophy; pathogenesis; patient registry; therapeutic approach.

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Conflict of interest statement

The authors declare no conflict of interest. The funders had no role in the design of the study; in the collection, analyses, or interpretation of data; in the writing of the manuscript; or in the decision to publish the results.

Figures

Figure 1
Figure 1
Various muscular and extramuscular symptoms of oculopharyngeal muscular dystrophy (OPMD). Patients with OPMD can manifest various muscular and extramuscular symptoms.
Figure 2
Figure 2
Pathogenesis and therapeutic approach for OPMD. Several therapeutic strategies have been proposed based on the pathogenesis of OPMD, such as (1) knockdown of mutant PABPN1 and/or augmentation of wild-type PABPN1 using adeno-associated virus (AAV) vectors; (2) boosting muscle growth using myostatin inhibitor; (3) reduction and dispersal of intranuclear aggregates using cystamine, doxycycline, trehalose, guanabenz, and intrabodies; and (4) autologous myoblast transplantation combined with cricopharyngeal myotomy.
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