Congenital myotonic dystrophy type 1

CDM1 / Congenital myotonic dystrophy / Congenital form of myotonic dystrophy type 1

8.7
Overall
Confidence: 78%
Composite of urgency, severity, and feasibility — higher score indicates greater research priority
MONDO:MONDO:0000902DMPK ↗

Congenital myotonic dystrophy (CDM1) is the most severe form of myotonic dystrophy type 1, typically presenting at birth with hypotonia and respiratory failure. Birth prevalence estimates from Orphanet and registries suggest DM1 overall around 1:8,000, with congenital forms a small subset, often clustering in families with very large maternal CTG expansions.

Drugs in Pipeline
13
4 Phase 3 · 5 Phase 2 · 4 Phase 1
→
Clinical Trials
50
19 recruiting · 4 active · 21 completed · 6 other
→
Evidence Sources (30)
NCBI GeneReviews↗ClinicalTrials.gov / U.S. National Library of Medicine↗Myotonic Dystrophy Foundation / American Academy of Neurology↗Orphanet↗Orphanet↗

Last updated: March 26, 2026

Data sources: ClinVar 2026-03 · gnomAD v4.1 · ClinicalTrials.gov API v2 · MONDO:MONDO:0000902