/rigid spine syndrome

rigid spine syndrome

Rare Disease

MONDO:0019951

Also Known As

rigid spine congenital muscular dystrophydesmin-related myopathies with Mallory bodiesmuscular dystrophy, congenital, merosin positive with early spine rigidityrigid spine muscular dystrophy-1

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.