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congenital myopathy 2b, severe infantile, autosomal recessive - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

congenital myopathy 2b, severe infantile, autosomal recessive

MONDO:0859517

Overview

GeneticsAutosomal recessive · ACTA1 (chr 1)

ResearchLimited published research (6 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: Poor head control, Generalized muscle weakness, Feeding difficulties, and Low muscle tone (hypotonia) and others; and very common findings: Difficulty swallowing (dysphagia). 15 total HPO annotations.

Organ System	Phenotype Count	Example Features
Muscles	5	Generalized muscle weakness, Low muscle tone (hypotonia), Generalized hypotonia

Diagnosis

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

Prognosis

Phenotype severity distribution: 12 always present features, 1 very common feature.

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 2b, severe infantile, autosomal recessive.

6 publications have been identified in PubMed for congenital myopathy 2b, severe infantile, autosomal recessive. Research spans Epidemiology / Natural History (67%) and Review / Meta-Analysis (33%).

Recent Publications

Badonyi M (2025). [PMID: 40998763](https://pubmed.ncbi.nlm.nih.gov/40998763/). *Nature communications*. [Epidemiology / Natural History]
Bui MT (2024). [PMID: 39707553](https://pubmed.ncbi.nlm.nih.gov/39707553/). *Acta neuropathologica communications*. [Epidemiology / Natural History]
Karthikeyan P (2024). [PMID: 39548682](https://pubmed.ncbi.nlm.nih.gov/39548682/). *Molecular genetics & genomic medicine*. [Epidemiology / Natural History]
Findlay AR (2024). [PMID: 39501809](https://pubmed.ncbi.nlm.nih.gov/39501809/). *Disease models & mechanisms*. [Review / Meta-Analysis]
Harikrishna GV (2024). [PMID: 38968056](https://pubmed.ncbi.nlm.nih.gov/38968056/). *Journal of neuromuscular diseases*. [Epidemiology / Natural History]

Data assembled from 6 of 12 sources · Last updated Sep 20, 2026, 5:14 PM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:620265

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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congenital myopathy 2b, severe infantile, autosomal recessive

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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