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Updated: Nov 10, 2025

Multi-exon Skipping Using Cocktail Antisense Oligonucleotides in the Canine X-linked Muscular Dystrophy
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Recent Progress in Oculopharyngeal Muscular Dystrophy.

Satoshi Yamashita1

  • 1Department of Neurology, Graduate School of Medical Sciences, Kumamoto University, Kumamoto 860-8556, Japan.

Journal of Clinical Medicine
|April 3, 2021
PubMed
Summary

Oculopharyngeal muscular dystrophy (OPMD) is a genetic myopathy causing progressive weakness. Establishing a Japanese OPMD patient registry is crucial for understanding unmet needs and developing effective treatments.

Keywords:
clinical characteristicsoculopharyngeal muscular dystrophypathogenesispatient registrytherapeutic approach

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Area of Science:

  • Neurology
  • Genetics
  • Rare Diseases

Background:

  • Oculopharyngeal muscular dystrophy (OPMD) is a late-onset, progressive myopathy.
  • It stems from abnormal trinucleotide repeat expansion in the *PABPN1* gene.
  • Symptoms include ptosis, dysphagia, and limb weakness, with variable progression.

Purpose of the Study:

  • To review recent clinical and pathological findings in OPMD.
  • To propose establishing a nationwide OPMD patient registry in Japan.
  • To address unmet medical needs and identify therapeutic targets.

Main Methods:

  • Literature review of OPMD clinical and pathological studies.
  • Proposal for a nationwide patient registry in Japan.

Main Results:

  • OPMD is caused by (GCN)n repeat expansion in the *PABPN1* gene.
  • Autologous myoblast transplantation shows potential therapeutic benefits.
  • Patient data is essential for treatment development in non-endemic areas.

Conclusions:

  • A Japanese OPMD patient registry is vital for understanding disease burden.
  • The registry will facilitate identification of therapeutic targets and efficacy measures.
  • This initiative aims to improve treatment strategies for OPMD patients.