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Congenital muscular dystrophy

rare

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.

Identifiers
MONDO:0019950 Orphanet:97242
Part of
Congenital nervous system disorderMuscular dystrophy
Also known as
CMD · congenital MD · MDC

Subtypes

All diseases Rare only
Disease Subtypes
Muscular dystrophy-dystroglycanopathy 39
Muscle-eye-brain disease 9
Bethlem myopathy 4
Ullrich congenital muscular dystrophy 4
Rigid spine syndrome 3
Congenital muscular dystrophy caused by variation in POMGNT2 2
SNUPN-related muscular dystrophy with or without multi-system involvement 1
Collagen 6-related congenital muscular dystrophy 1
Arthrogryposis due to muscular dystrophy
Autosomal recessive myogenic arthrogryposis multiplex congenita
Congenital merosin-deficient muscular dystrophy 1A
Congenital muscular dystrophy 1B
Congenital muscular dystrophy due to LMNA mutation
Congenital muscular dystrophy due to integrin alpha-7 deficiency
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
Muscular dystrophy, congenital, with rapid progression

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