Rigid spine syndrome

MONDO:0019951

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.

Also known as: rigid spine congenital muscular dystrophy, desmin-related myopathies with Mallory bodies, muscular dystrophy, congenital, merosin positive with early spine rigidity, rigid spine muscular dystrophy-1

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