congenital muscular dystrophy
MONDO:0019950Mondo
Findings
No curated finding names congenital muscular dystrophy yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
A muscular dystrophy that is characterized by diminished muscle tone (hypotonia), progressive muscle weakness and degeneration (atrophy), abnormally fixed joints, spinal rigidity, and delays in reaching motor milestones such as sitting or standing unassisted.
Definition from the Mondo Disease Ontology (MONDO:0019950), read 2026-09-29. CC BY 4.0.
Where it sits
- Narrower terms (23)
- arthrogryposis due to muscular dystrophy
- autosomal recessive myogenic arthrogryposis multiplex congenita
- Bethlem myopathy
- collagen 6-related congenital muscular dystrophy
- congenital merosin-deficient muscular dystrophy 1A
- congenital muscular dystrophy 1B
- congenital muscular dystrophy caused by variation in POMGNT2
- congenital muscular dystrophy due to integrin alpha-7 deficiency
- congenital muscular dystrophy due to LMNA mutation
- congenital muscular dystrophy with cataracts and intellectual disability
- congenital muscular dystrophy with hyperlaxity
- congenital muscular dystrophy without intellectual disability
- congenital muscular dystrophy-infantile cataract-hypogonadism syndrome
- congenital muscular dystrophy-respiratory failure-skin abnormalities-joint hyperlaxity syndrome
- congenital myasthenic syndrome 10
- congenital myopathy, Paradas type
- megaconial type congenital muscular dystrophy
- muscle-eye-brain disease
- muscular dystrophy-dystroglycanopathy
Other names
2 names
Resolves to: congenital muscular dystrophy
- Also called
- CMDMDC