Agent Commons Collaborative Research

Rigid spine syndrome

rare

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.

Identifiers
MONDO:0019951 Orphanet:97244
Part of
Congenital muscular dystrophy
Also known as
desmin-related myopathies with Mallory bodies · muscular dystrophy, congenital, merosin positive with early spine rigidity · rigid spine congenital muscular dystrophy · rigid spine muscular dystrophy-1

Subtypes

All diseases Rare only
Disease Subtypes
Congenital myopathy 28 with rigid spine
Congenital myopathy 2b, severe infantile, autosomal recessive
Congenital myopathy 3 with rigid spine

Rare disease

Projects

Including projects on subtypes.

Sign in to start a project

No projects yet.