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 4 - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

congenital myasthenic syndrome 4

MONDO:1040021

Overview

Any postsynaptic congenital myasthenic syndrome in which the cause of the disease is a mutation in the CHRNE gene.

OnsetNEONATAL

Diagnosis

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

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 4.

38 publications have been identified in PubMed for congenital myasthenic syndrome 4. Research spans Case Report / Case Series (39%), Epidemiology / Natural History (18%), and Review / Meta-Analysis (13%).

Research Type	Count	% of Total
Patient case studies	15	39%

Data assembled from 2 of 12 sources · Last updated Sep 19, 2026, 8:02 PM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

Questions for Your Care Team

→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 4

Overview

Diagnosis

Research Landscape

Medical References

Subtypes

Related Diseases

Questions for Your Care Team

Questions for Your Care Team

Recent Publications