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myopathy, proximal, and ophthalmoplegia - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

myopathy, proximal, and ophthalmoplegia

MONDO:0011577

Also known as:myopathy with congenital joint contractures, ophthalmoplegia, and rimmed vacuolesproximal myopathy and ophthalmoplegiaMYPOP

Overview

Any congenital myopathy in which the cause of the disease is a mutation in MYH2 gene. The disorder is either slowly progressive or nonprogressive, and affected individuals retain ambulation, although there is variable severity. It can show both autosomal dominant and autosomal recessive inheritance.

GeneticsAutosomal recessive, Autosomal dominant · MYH2 (chr 17)

OnsetCONGENITAL

Clinical Presentation

Built from Human Phenotype Ontology (HPO) phenotype annotations and GeneReviews clinical descriptions. Features represent findings documented across known cases — not an exhaustive list of possible symptoms.

Features include always present findings: Myopathic facies, Difficulty swallowing (dysphagia), Sideways curvature of the spine (scoliosis), and Myopathy and others; and sometimes findings: Scapular winging and Distal muscle weakness. 18 total HPO annotations.

Organ System	Phenotype Count	Example Features
Muscles	11	Myopathic facies, Generalized muscle weakness, Myopathy

Genetic Landscape

Assembled from HGNC gene records, ClinGen gene-disease validity evidence, and ClinVar pathogenic variant data. Validity classifications reflect the strength of published evidence linking each gene to this disease.

MYH2 encodes myosin heavy chain 2 (1,941 aa). Myosins are actin-based motor molecules with ATPase activity essential for muscle contraction Highest expression in Muscle Skeletal (1,068 TPM) and Minor Salivary Gland (7.2 TPM).

Myopathy, proximal, and ophthalmoplegia is caused by mutations in the MYH2 gene on chromosome 17.

MYH2 is classified as a druggable target with score 0.0.

Diagnosis

Genetic testing for MYH2 is available. Testing is considered confirmatory for diagnosis.

Prognosis

Phenotype severity distribution: 11 always present features.

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 myopathy, proximal, and ophthalmoplegia.

12 publications have been identified in PubMed for myopathy, proximal, and ophthalmoplegia. Research spans Case Report / Case Series (83%), Review / Meta-Analysis (8%), and Epidemiology / Natural History (8%).

Research Type	Count	% of Total
Patient case studies	10	83%

Data assembled from 6 of 12 sources · Last updated Sep 20, 2026, 2:56 AM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:605637

Questions for Your Care Team

→Should my partner and I meet with a genetic counselor to discuss carrier status and family planning?
→Are there specialists or centers of excellence for this condition in my area?
→Is there a patient registry I should consider joining?

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Kisho

myopathy, proximal, and ophthalmoplegia

Overview

Clinical Presentation

Genetic Landscape

Diagnosis

Prognosis

Research Landscape

Medical References

External Resources

OMIM

Questions for Your Care Team

Questions for Your Care Team

Explore clinical features

Recent Publications

myopathy, proximal, and ophthalmoplegia

Overview

Clinical Presentation

Genetic Landscape

Diagnosis

Prognosis

Research Landscape

Medical References

External Resources

OMIM

Related Diseases

Questions for Your Care Team

Questions for Your Care Team

Explore clinical features

Recent Publications