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myopathy, congenital, progressive, with scoliosis - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

myopathy, congenital, progressive, with scoliosis

MONDO:0032821

Also known as:MYOSCO

Overview

GeneticsAutosomal recessive · PAX7 (chr 1)

OnsetINFANTILE

ResearchLimited published research (8 articles)

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: Ptosis; and very common findings: Axial hypotonia and Difficulty walking (gait disturbance). 27 total HPO annotations.

Organ System	Phenotype Count	Example Features
Muscles	8	Generalized hypotonia, Muscle weakness, Skeletal muscle atrophy

Genetic Landscape

PAX7 function has not been fully characterized.

Myopathy, congenital, progressive, with scoliosis is associated with mutations in the PAX7 gene on chromosome 1.

Diagnosis

Genetic testing for PAX7 is available. Testing is considered confirmatory for diagnosis.

Biomarker and diagnostic research for myopathy, congenital, progressive, with scoliosis has been reported in the published literature.

Prognosis

Phenotype severity distribution: 1 always present feature, 2 very common features, 5 common 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, congenital, progressive, with scoliosis.

8 publications have been identified in PubMed for myopathy, congenital, progressive, with scoliosis. Research spans Case Report / Case Series (50%), Review / Meta-Analysis (25%), and Diagnostic / Biomarker (13%).

Recent Publications

Ganassi M (2026). [PMID: 41611663](https://pubmed.ncbi.nlm.nih.gov/41611663/). *Cell Death Dis*. [Case Report / Case Series]
Hayashi S (2025). [PMID: 41193724](https://pubmed.ncbi.nlm.nih.gov/41193724/). *J Hum Genet*. [Review / Meta-Analysis]
Baba Y (2025). [PMID: 39864868](https://pubmed.ncbi.nlm.nih.gov/39864868/). *Rinsho Shinkeigaku*. [Case Report / Case Series]
Shimazaki R (2025). [PMID: 41270518](https://pubmed.ncbi.nlm.nih.gov/41270518/). *Neuromuscul Disord*. [Diagnostic / Biomarker]
Darfallah L (2025). [PMID: 39827508](https://pubmed.ncbi.nlm.nih.gov/39827508/). *Rev Esp Patol*. [Case Report / Case Series]

Data assembled from 5 of 12 sources · Last updated Sep 20, 2026, 5:38 PM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:618578

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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myopathy, congenital, progressive, with scoliosis

Overview

Clinical Presentation

Genetic Landscape

Diagnosis

Prognosis

Research Landscape

Recent Publications

Medical References

External Resources

OMIM

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Questions for Your Care Team

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