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congenital myopathy 2a, typical, autosomal dominant - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

congenital myopathy 2a, typical, autosomal dominant

MONDO:0008070

Also known as:ACTA1 nemaline myopathyCMYO2Aactin accumulation myopathy

Overview

An inherited myopathy caused by mutations in the ACTA1 gene, encoding actin, alpha skeletal muscle. The phenotype is highly variable, and as such attempts at classification by clinical features is not optimal. Generally, affected individuals have generalized muscle weakness, typically involving proximal muscles, the face, bulbar and respiratory muscles.

GeneticsAutosomal recessive, Autosomal 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 sometimes findings: Hypertonia, Muscle stiffness (rigidity), Overactive reflexes (hyperreflexia), and Enlarged and weakened heart (dilated cardiomyopathy). 38 total HPO annotations.

Organ System	Phenotype Count	Example Features
Muscles	12	Limb muscle weakness, Type 1 muscle fiber predominance, Proximal muscle weakness

Diagnosis

Drawn from GeneReviews diagnostic guidelines, newborn screening panel status (RUSP), and ClinGen gene-disease validity classifications. Reflects current clinical evidence and consensus where available.

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

Biomarker and diagnostic research for congenital myopathy 2a, typical, autosomal dominant has been reported in the published literature.

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 2a, typical, autosomal dominant.

4 publications have been identified in PubMed for congenital myopathy 2a, typical, autosomal dominant. Research spans Basic Science / Preclinical (50%), Diagnostic / Biomarker (25%), and Epidemiology / Natural History (25%).

Recent Publications

Hildebrandt C (2025). [PMID: 40661861](https://pubmed.ncbi.nlm.nih.gov/40661861/). *Neurology. Genetics*. [Epidemiology / Natural History]
de Feraudy Y (2024). [PMID: 38982518](https://pubmed.ncbi.nlm.nih.gov/38982518/). *Genome medicine*. [Diagnostic / Biomarker]
Garg A (2024). [PMID: 39503885](https://pubmed.ncbi.nlm.nih.gov/39503885/). *Proceedings of the National Academy of Sciences of the United States of America*. [Basic Science / Preclinical]
Bui MT (2024). [PMID: 39707553](https://pubmed.ncbi.nlm.nih.gov/39707553/). *Acta neuropathologica communications*. [Basic Science / Preclinical]

Data assembled from 7 of 12 sources · Last updated Sep 19, 2026, 9:41 PM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:161800

Orphanet

European rare disease database

Orphanet:98904

GARD

Genetic and Rare Diseases Info Center

GARD:10111

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 2a, typical, autosomal dominant

Overview

Clinical Presentation

Diagnosis

Research Landscape

Recent Publications

Medical References

External Resources

OMIM

Orphanet

GARD

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Questions for Your Care Team

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