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congenital myasthenic syndrome 3A (CMS3A) - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

congenital myasthenic syndrome 3A

MONDO:0014583

Also known as:CMS3Acongenital myasthenic syndrome 3A, slow-channelcongenital myasthenic syndrome type 3A

Overview

A congenital myasthenic syndrome characterized by autosomal dominant inheritance of postsynaptic neuromuscular junction defects resulting in prolonged synaptic currents and early-onset progressive muscle weakness that has material basis in heterozygous mutation in the CHRND gene on chromosome 2q37.

GeneticsAutosomal dominant · CHRND (chr 2)

OnsetNEONATAL, INFANTILE, JUVENILE

ResearchLimited published research (5 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, Difficulty swallowing (dysphagia), Generalized muscle weakness, and Easy fatigability and others.

Organ System	Phenotype Count	Example Features
Muscles	4	Generalized muscle weakness, Low muscle tone (hypotonia), Loss of ambulation

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.

CHRND encodes cholinergic receptor nicotinic delta subunit (517 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 Muscle Skeletal (48.1 TPM) and Testis (0.6 TPM).

Congenital myasthenic syndrome 3A is associated with mutations in the CHRND gene on chromosome 2.

CHRND is classified as a druggable target (Druggable Genome, Ion Channel, and Transporter categories) with score 0.7.

Diagnosis

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

Biomarker and diagnostic research for congenital myasthenic syndrome 3A has been reported in the published literature.

Prognosis

Phenotype severity distribution: 12 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 3A.

5 publications have been identified in PubMed for congenital myasthenic syndrome 3A. Research spans Basic Science / Preclinical (60%), Diagnostic / Biomarker (20%), and Epidemiology / Natural History (20%).

Recent Publications

Zhang J (2025). [PMID: 40442802](https://pubmed.ncbi.nlm.nih.gov/40442802/). *Orphanet J Rare Dis*. [Epidemiology / Natural History]
Wang K (2025). [PMID: 39871147](https://pubmed.ncbi.nlm.nih.gov/39871147/). *BMC Genomics*. [Basic Science / Preclinical]
Liu Y (2025). [PMID: 40704522](https://pubmed.ncbi.nlm.nih.gov/40704522/). *FASEB J*. [Basic Science / Preclinical]
Ryan-Phillips F (2024). [PMID: 39595115](https://pubmed.ncbi.nlm.nih.gov/39595115/). *Biomedicines*. [Diagnostic / Biomarker]
de Feraudy Y (2024). [PMID: 38982518](https://pubmed.ncbi.nlm.nih.gov/38982518/). *Genome Med*. [Basic Science / Preclinical]

Data assembled from 5 of 12 sources · Last updated Sep 18, 2026, 12:02 AM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:616321

GARD

Genetic and Rare Diseases Info Center

GARD:16084

Questions for Your Care Team

→Should I pursue genetic testing for CHRND, 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 myasthenic syndrome 3A

Overview

Clinical Presentation

Genetic Landscape

Diagnosis

Prognosis

Research Landscape

Recent Publications

Medical References

External Resources

OMIM

GARD

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Questions for Your Care Team

Questions for Your Care Team

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