Rigid 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. [ Orphanet:97244 ]

This is just here as a test because I lose it

Term information

database cross reference
  • MESH:C535683 (Orphanet:97244)
  • ICD10:G71.2 (Orphanet:97244)
  • Orphanet:97244 (MONDO:equivalentTo)
  • GARD:0004723 (Orphanet-shared)
Subsets

ordo_disease

definition

Rigid 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.

exactMatch

http://www.orpha.net/ORDO/Orphanet_97244

http://identifiers.org/mesh/C535683

has exact synonym

rigid spine congenital muscular dystrophy

has related synonym

rigid spine muscular dystrophy-1

desmin-related myopathies with Mallory bodies

muscular dystrophy, congenital, merosin positive with early spine rigidity

id

MONDO:0019951