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 4B (CMS4B) - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

congenital myasthenic syndrome 4B

MONDO:0014586

Also known as:CMS4Bcongenital myasthenic syndrome 4B fast-channelcongenital myasthenic syndrome type 4B

Overview

A congenital myasthenic syndrome characterized by autosomal recessive inheritance of postsynaptic neuromuscular junction defects, early-onset progressive muscle weakness, and kinetic abnormalities of the AChR channel that has material basis in homozygous or compound heterozygous mutation in the CHRNE gene on chromosome 17p13.

GeneticsAutosomal recessive · CHRNE (chr 17)

OnsetNEONATAL

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: Weakness of facial musculature, Ophthalmoplegia, Fatigable weakness of skeletal muscles, and EMG: decremental response of compound muscle action potential to repetitive nerve stimulation. 13 total HPO annotations.

Organ System	Phenotype Count	Example Features
Muscles	7	Low muscle tone (hypotonia), Weakness of facial musculature, Fatigable weakness of skeletal muscles

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 4B 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 4B has been reported in the published literature.

Prognosis

Phenotype severity distribution: 4 always present 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 myasthenic syndrome 4B.

3 publications have been identified in PubMed for congenital myasthenic syndrome 4B. 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, 1:01 AM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:616324

GARD

Genetic and Rare Diseases Info Center

GARD:16087

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 4B

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