rigid spine syndrome
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.
MONDO:0016187
qualitative or quantitative defects of desmin
is_a
MONDO:0016197
neuromuscular disease caused by qualitative or quantitative defects of selenoprotein N1
is_a
MONDO:0019950
congenital muscular dystrophy
is_a
desmin-related myopathies with Mallory bodies
related
muscular dystrophy, congenital, merosin positive with early spine rigidity
related
rigid spine congenital muscular dystrophy
exact
rigid spine muscular dystrophy-1
related