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congenital myotonic dystrophy - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

congenital myotonic dystrophy

MONDO:0023595

Also known as:Congenital Myotonic dystrophiesMYOTONIC dystrophy CONGENMyotonic dystrophies, Congenital

Find Clinical TrialsTrials

Overview

Myotonic dystrophy that is present at birth.

Clinical Trials6 registered · 6 recruiting

Diagnosis

Biomarker and diagnostic research for congenital myotonic dystrophy 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.

6 clinical trials registered, 6 recruiting. Interventions under study include other interventions, drug therapy, and biologic therapy. Pipeline includes 1 PHASE2, 1 PHASE1. Research is sponsored by a mix of industry and academic institutions.

NCT ID	Title	Phase	Sponsor	Status
[NCT02398786](https://clinicaltrials.gov/study/NCT02398786)

Data assembled from 3 of 12 sources · Last updated Sep 19, 2026, 6:45 AM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

GARD

Genetic and Rare Diseases Info Center

GARD:9134

Questions for Your Care Team

→Are any of the 6 active clinical trials 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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Research Type	Count	% of Total
Research summaries	44	37%
Laboratory research	33	28%
Disease patterns and progression	12	10%
Testing and diagnosis research	9	8%
Patient case studies	8	7%
New treatment approaches	7	6%
Clinical study results	6	5%

congenital myotonic dystrophy

Overview

Diagnosis

Research Landscape

Medical References

External Resources

GARD

Related Diseases

Questions for Your Care Team

Questions for Your Care Team

Recent Publications