qualitative or quantitative defects of desmin neuromuscular disease caused by qualitative or quantitative defects of selenoprotein N1 congenital muscular dystrophy rigid spine syndrome Orphanet:97244 icd11.foundation:801727141 muscular dystrophy, congenital, merosin positive with early spine rigidity GARD:0004723 desmin-related myopathies with Mallory bodies rigid spine muscular dystrophy-1 rigid spine congenital muscular dystrophy 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. MESH:C535683 MONDO:0019951