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myasthenic syndrome, congenital, 1B, fast-channel (CMS1B) - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

myasthenic syndrome, congenital, 1B, fast-channel

MONDO:0012156

Also known as:CMS1Bcongenital myasthenic syndrome 1B, fast-channelcongenital myasthenic syndrome type 1B

Overview

A congenital myasthenic syndrome characterized by defects in postsynaptic neuromuscular junctions with early-onset progressive muscle weakness that has material basis in mutation in the CHRNA1 gene on chromosome 2q.

GeneticsAutosomal recessive, Autosomal dominant · CHRNA1 (chr 2)

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 always present findings: Limb muscle weakness, Weakness of facial musculature, EMG: decremental response of compound muscle action potential to repetitive nerve stimulation, and Easy fatigability and others. 27 total HPO annotations.

Organ System	Phenotype Count	Example Features
Muscles	11	Type 2 muscle fiber atrophy, Low muscle tone (hypotonia), Limb muscle weakness

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.

CHRNA1 encodes cholinergic receptor nicotinic alpha 1 subunit (457 aa). Upon acetylcholine binding, 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 (29.9 TPM) and Pituitary (1.9 TPM).

Myasthenic syndrome, congenital, 1B, fast-channel is associated with mutations in the CHRNA1 gene on chromosome 2.

The CHRNA1 protein participates in CHRNA9:CHRNA10:AcCho transports Ca2+ from the extracellular region to the cytosol pathway.

CHRNA1 is classified as a druggable target (Cell Surface, Druggable Genome, and Ion Channel categories) with score 2.5.

Diagnosis

Genetic testing for CHRNA1 is available. Testing is considered confirmatory for diagnosis.

Biomarker and diagnostic research for myasthenic syndrome, congenital, 1B, fast-channel has been reported in the published literature.

Prognosis

Phenotype severity distribution: 5 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 myasthenic syndrome, congenital, 1B, fast-channel.

4 publications have been identified in PubMed for myasthenic syndrome, congenital, 1B, fast-channel. Research spans Basic Science / Preclinical (50%), Diagnostic / Biomarker (25%), and Epidemiology / Natural History (25%).

Recent Publications

Littel HR (2026). [PMID: 40944391](https://pubmed.ncbi.nlm.nih.gov/40944391/). *FEBS open bio*. [Basic Science / Preclinical]
Ham AS (2025). [PMID: 40044687](https://pubmed.ncbi.nlm.nih.gov/40044687/). *Nature communications*. [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 : a journal of neurology*. [Epidemiology / Natural History]

Data assembled from 5 of 12 sources · Last updated Sep 20, 2026, 5:38 PM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:608930

GARD

Genetic and Rare Diseases Info Center

GARD:15445

Questions for Your Care Team

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→Is there a patient registry I should consider joining?

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myasthenic syndrome, congenital, 1B, fast-channel

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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