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Rigid spine syndrome
rareRigid spine syndrome (RSS) is a slowly progressive childhood-onset congenital muscular dystrophy characterized by contractures of the spinal extensor muscles associated with abnormal posture (limitation of neck and trunk flexure), progressive scoliosis of the spine, early marked cervico-axial muscle weakness with relatively preserved strength and function of the extremities and progressive respiratory insufficiency.
- Identifiers
- MONDO:0019951 Orphanet:97244
- Part of
- Congenital muscular dystrophy
- Also known as
- desmin-related myopathies with Mallory bodies · muscular dystrophy, congenital, merosin positive with early spine rigidity · rigid spine congenital muscular dystrophy · rigid spine muscular dystrophy-1
Subtypes
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