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oculopharyngodistal myopathy (OPDM) - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

oculopharyngodistal myopathy

MONDO:0025193

Also known as:OPDMoculopharyngeal distal myopathyfaciooculolaryngopharyngeal myopathy with distal and respiratory involvement

Overview

Oculopharyngodistal myopathy (OPDM) is a rare, adult-onset hereditary muscle disease. People with OPDM present with progressive eye and throat (pharyngeal) problems and involvement of the muscles of the lower legs and arms. Symptoms may include eyelid drooping (ptosis), swallowing difficulty, hoarse and nasal voice, leg and arm weakness, as well as muscle wasting in the face and in the legs and arms. Many people have respiratory problems due to respiratory muscle weakness. In rare cases, there is also hearing loss, as well as severe weakness in muscles of the forearms and thighs. As the disease progresses, other muscles may be affected. A blood exam may show an increased creatine kinase level and an abnormal EMG. Inheritance may be autosomal dominant or autosomal recessive. The specific cause is still unknown.

OnsetMIDDLE_AGE

Diagnosis

Biomarker and diagnostic research for oculopharyngodistal myopathy has been reported in the published literature.

Research Landscape

Sourced from ClinicalTrials.gov and PubMed. Publication types are classified using NLM-curated article metadata; research type breakdowns reflect the nature of published work for this disease.

No clinical trials have been registered for oculopharyngodistal myopathy.

24 publications have been identified in PubMed for oculopharyngodistal myopathy. Research spans Basic Science / Preclinical (29%), Case Report / Case Series (25%), and Review / Meta-Analysis (21%).

Research Type	Count	% of Total
Laboratory research	7	29%

Data assembled from 3 of 12 sources · Last updated Sep 19, 2026, 6:57 PM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

Orphanet

European rare disease database

Orphanet:98897

GARD

Genetic and Rare Diseases Info Center

GARD:12592

Questions for Your Care Team

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Kisho

oculopharyngodistal myopathy

Overview

Diagnosis

Research Landscape

Medical References

External Resources

Orphanet

GARD

Questions for Your Care Team

Questions for Your Care Team

Recent Publications

Latest News & Developments

GGC repeat expansions within new open reading frames are translated into toxic polyglycine proteins in oculopharyngodistal myopathy.

oculopharyngodistal myopathy

Overview

Diagnosis

Research Landscape

Medical References

External Resources

Orphanet

GARD

Subtypes

Related Diseases

Questions for Your Care Team

Questions for Your Care Team

Recent Publications

Latest News & Developments

GGC repeat expansions within new open reading frames are translated into toxic polyglycine proteins in oculopharyngodistal myopathy.