Rigid spine syndrome (Q103676)

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.