Rigid spine syndrome (Q103676): Difference between revisions

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Latest revision as of 09:26, 17 August 2026

Rigid spine syndrome is a slowly progressive congenital muscular dystrophy characterised by early contractures of the spinal extensor muscles with abnormal posture and progressive scoliosis of the spine. Most patients present as floppy infants with cervico-axial weakness during the first 2 years of life and achieve independent ambulation, although motor milestones might be delayed. A typical feature of the disease is marked axial and respiratory weakness and muscular atrophy, while strength and function of the extremities is relatively preserved.

Language	Label	Description	Also known as
default for all languages	ID_801727141
English	Rigid spine syndrome	Rigid spine syndrome is a slowly progressive congenital muscular dystrophy characterised by early contractures of the spinal extensor muscles with abnormal posture and progressive scoliosis of the spine. Most patients present as floppy infants with cervico-axial weakness during the first 2 years of life and achieve independent ambulation, although motor milestones might be delayed. A typical feature of the disease is marked axial and respiratory weakness and muscular atrophy, while strength and function of the extremities is relatively preserved.