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distal myopathy with vocal cord weakness - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

distal myopathy with vocal cord weakness

MONDO:0018951

Also known as:MATR3-related distal myopathyVCPDMMPD2

Overview

Distal myopathy with vocal cord and pharyngeal weakness is an adult-onset, autosomal dominant muscular disease which is characterized by muscle weakness in the feet and hands, combined with vocal or swallowing dysfunction.

ResearchLimited published research (2 articles)

Prognosis

Estimated prevalence: <1 in 1,000,000 (VERY_RARE).

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 distal myopathy with vocal cord weakness.

2 publications have been identified in PubMed for distal myopathy with vocal cord weakness. Research spans Review / Meta-Analysis (50%) and Case Report / Case Series (50%).

Recent Publications

Findlay AR (2024). [PMID: 39501809](https://pubmed.ncbi.nlm.nih.gov/39501809/). *Dis Model Mech*. [Review / Meta-Analysis]
Murtazina A (2024). [PMID: 39192891](https://pubmed.ncbi.nlm.nih.gov/39192891/). *Front Genet*. [Case Report / Case Series]

Data assembled from 3 of 12 sources · Last updated Sep 20, 2026, 1:01 AM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

Orphanet

European rare disease database

Orphanet:600

GARD

Genetic and Rare Diseases Info Center

GARD:1887

Questions for Your Care Team

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distal myopathy with vocal cord weakness

Overview

Prognosis

Research Landscape

Recent Publications

Medical References

External Resources

Orphanet

GARD

Related Diseases

Questions for Your Care Team

Questions for Your Care Team