Rigid spine syndrome (Q103676): Difference between revisions
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A síndrome da coluna rígida é uma distrofia muscular congênita lentamente progressiva caracterizada por contraturas precoces dos músculos extensores da coluna vertebral com postura anormal e escoliose progressiva da coluna vertebral. A maioria dos pacientes se apresenta como bebês hipotônicos com fraqueza cérvico-axial durante os primeiros 2 anos de vida que consegue deambulação independente, embora os marcos motores possam ser atrasados. Uma característica típica da doença é marcada fraqueza axial e respiratória e atrofia muscular, enquanto a força e a função das extremidades são relativamente preservadas. | |||
| description / en | description / en | ||
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. | |||
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 |
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| 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. |
