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neuromuscular junction disease - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

neuromuscular junction disease

MONDO:0020124

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Overview

Conditions characterized by impaired transmission of impulses at the neuromuscular junction. This may result from disorders that affect receptor function, pre- or postsynaptic membrane function, or acetylcholinesterase activity. The majority of diseases in this category are associated with autoimmune, toxic, or inherited conditions.

Clinical Trials1 registered

Diagnosis

Biomarker and diagnostic research for neuromuscular junction disease 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.

1 clinical trial registered. Interventions under study include drug therapy. Research is primarily sponsored by academic and government institutions.

15 publications have been identified in PubMed for neuromuscular junction disease. Research spans Review / Meta-Analysis (47%), Case Report / Case Series (20%), and Basic Science / Preclinical (13%).

Research Type	Count	% of Total
Research summaries	7	47%

Data assembled from 4 of 12 sources · Last updated Sep 20, 2026, 6:50 AM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

Orphanet

European rare disease database

Orphanet:98491

GARD

Genetic and Rare Diseases Info Center

GARD:19473

Questions for Your Care Team

→Are any of the 1 active clinical trial a good fit for my situation?
→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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neuromuscular junction disease

Overview

Diagnosis

Research Landscape

Medical References

External Resources

Orphanet

GARD

Related Diseases

Questions for Your Care Team

Questions for Your Care Team

Recent Publications