Preferred Label : Rigid spine syndrome;
ICD-11 definition : Rigid spine syndrome is a slowly progressive congenital muscular dystrophy characterized
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.;
Origin ID : 801727141;
Automatic exact mappings (from CISMeF team)
- Validated automatic mappings to BTNT
Rigid spine syndrome is a slowly progressive congenital muscular dystrophy characterized
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.
