Kisho

Kisho is an information platform, not a medical provider. Nothing on this site constitutes medical advice, diagnosis, or treatment recommendations. All content is aggregated from publicly available sources (including ClinicalTrials.gov, PubMed, FDA.gov, and Orphanet) and is provided for informational purposes only. Clinical trial eligibility, treatment decisions, and any health-related actions should always be discussed with a qualified healthcare professional. Kisho does not endorse any specific therapy, organization, or clinical trial. Terms of use · Privacy policy

congenital myasthenic syndrome 4A - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

congenital myasthenic syndrome 4A

MONDO:0011600

Also known as:CMS Ia1CMS1A1CMS4A

Overview

A congenital myasthenic syndrome characterized by postsynaptic neuromuscular junction defects, early-onset progressive muscle weakness, and prolonged opening and activity of the acetylcholine receptor channel that has material basis in heterozygous or rarely biallelic mutation in the CHRNE gene on chromosome 17p13.

GeneticsAutosomal recessive, Autosomal dominant · CHRNE (chr 17)

ResearchLimited published research (3 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: EMG: decremental response of compound muscle action potential to repetitive nerve stimulation. 21 total HPO annotations.

Organ System	Phenotype Count	Example Features
Muscles	8	Type 2 muscle fiber atrophy, Fatigable 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.

CHRNE encodes cholinergic receptor nicotinic epsilon subunit (493 aa). After binding acetylcholine, the AChR responds by an extensive change in conformation that affects all subunits and leads to opening of an ion-conducting channel across the plasma membrane Highest expression in Heart Atrial Appendage (78.3 TPM) and Pituitary (74.9 TPM).

Congenital myasthenic syndrome 4A is associated with mutations in the CHRNE gene on chromosome 17.

CHRNE is classified as a druggable target (Druggable Genome, Ion Channel, and Transporter categories) with score 0.5.

Diagnosis

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

Biomarker and diagnostic research for congenital myasthenic syndrome 4A has been reported in the published literature.

Prognosis

Phenotype severity distribution: 1 always present 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 myasthenic syndrome 4A.

3 publications have been identified in PubMed for congenital myasthenic syndrome 4A. Research spans Diagnostic / Biomarker (33%), Basic Science / Preclinical (33%), and Epidemiology / Natural History (33%).

Recent Publications

Mroczek M (2026). [PMID: 41575592](https://pubmed.ncbi.nlm.nih.gov/41575592/). *J Neurol*. [Basic Science / Preclinical]
Ryan-Phillips F (2024). [PMID: 39595115](https://pubmed.ncbi.nlm.nih.gov/39595115/). *Biomedicines*. [Diagnostic / Biomarker]
Theuriet J (2024). [PMID: 38696726](https://pubmed.ncbi.nlm.nih.gov/38696726/). *Brain*. [Epidemiology / Natural History]

Data assembled from 5 of 12 sources · Last updated Sep 19, 2026, 6:57 PM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:605809

GARD

Genetic and Rare Diseases Info Center

GARD:15387

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?

← Back to All Diseases

congenital myasthenic syndrome 4A

Overview

Clinical Presentation

Genetic Landscape

Diagnosis

Prognosis

Research Landscape

Recent Publications

Medical References

External Resources

OMIM

GARD

Related Diseases

Questions for Your Care Team

Questions for Your Care Team

Explore clinical features