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congenital myopathy 2c, severe infantile, autosomal dominant - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

congenital myopathy 2c, severe infantile, autosomal dominant

MONDO:0859523

Overview

GeneticsAutosomal dominant · ACTA1 (chr 1)

ResearchLimited published research (4 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: Low muscle tone (hypotonia), Weakness of facial musculature, Increased endomysial connective tissue, and Subdural hemorrhage and others; and common findings: Motor delay, High palate, Narrow face, and Delayed ability to roll over and others.

Organ System	Phenotype Count	Example Features
Muscles	9	Low muscle tone (hypotonia), Weakness of facial musculature, Type 1 muscle fiber predominance

Diagnosis

Genetic testing for ACTA1 is available. Testing is considered confirmatory for diagnosis.

Prognosis

Phenotype severity distribution: 19 always present features, 13 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 congenital myopathy 2c, severe infantile, autosomal dominant.

4 publications have been identified in PubMed for congenital myopathy 2c, severe infantile, autosomal dominant. Research spans Review / Meta-Analysis (50%) and Epidemiology / Natural History (50%).

Recent Publications

Badonyi M (2025). [PMID: 40998763](https://pubmed.ncbi.nlm.nih.gov/40998763/). *Nat Commun*. [Epidemiology / Natural History]
Findlay AR (2024). [PMID: 39501809](https://pubmed.ncbi.nlm.nih.gov/39501809/). *Dis Model Mech*. [Review / Meta-Analysis]
Politano L (2024). [PMID: 38791328](https://pubmed.ncbi.nlm.nih.gov/38791328/). *Int J Mol Sci*. [Review / Meta-Analysis]
Karthikeyan P (2024). [PMID: 39548682](https://pubmed.ncbi.nlm.nih.gov/39548682/). *Mol Genet Genomic Med*. [Epidemiology / Natural History]

Data assembled from 6 of 12 sources · Last updated Sep 20, 2026, 5:39 PM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:620278

Questions for Your Care Team

→Should I pursue genetic testing for ACTA1, and what would the results mean for my family?
→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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congenital myopathy 2c, severe infantile, autosomal dominant

Overview

Clinical Presentation

Diagnosis

Prognosis

Research Landscape

Recent Publications

Medical References

External Resources

OMIM

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Questions for Your Care Team

Questions for Your Care Team

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