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myasthenic syndrome, congenital, 23, presynaptic (CMS23) - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

myasthenic syndrome, congenital, 23, presynaptic

MONDO:0032596

Also known as:CMS23

Overview

GeneticsAutosomal recessive · SLC25A1 (chr 22)

ResearchLimited published research (1 article)

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: Increased jitter at single fiber EMG, Easy fatigability, and Fatigable weakness; and common findings: Hyporeflexia, Pes cavus, Bulbar palsy, and Poor suck and others. 16 total HPO annotations.

Organ System	Phenotype Count	Example Features
Muscles	5	Fatigable weakness, Enlarged calf muscles (calf muscle hypertrophy), Frequent falls

Genetic Landscape

SLC25A1 function has not been fully characterized.

Myasthenic syndrome, congenital, 23, presynaptic is associated with mutations in the SLC25A1 gene on chromosome 22.

Diagnosis

Genetic testing for SLC25A1 is available. Testing is considered confirmatory for diagnosis.

Prognosis

Phenotype severity distribution: 3 always present features, 8 common 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, 23, presynaptic.

1 publication has been identified in PubMed for myasthenic syndrome, congenital, 23, presynaptic. Research spans Epidemiology / Natural History (100%).

Recent Publications

Zhang J (2025). [PMID: 40442802](https://pubmed.ncbi.nlm.nih.gov/40442802/). *Orphanet journal of rare diseases*. [Epidemiology / Natural History]

Data assembled from 5 of 12 sources · Last updated Sep 20, 2026, 6:09 PM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:618197

GARD

Genetic and Rare Diseases Info Center

GARD:16308

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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myasthenic syndrome, congenital, 23, presynaptic

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

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