Rigid Spine Syndrome

Watchlist

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Retrieved

2021-01-23

Source

Orphanet

Trials

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Genes

SELENON, ACTA1, FHL1, WASHC5, DMD, EMD, FKTN, LMNA, BAG3, CCDC22

Drugs

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Rigid spine syndrome (RSS) is a slowly progressive childhood-onset congenital muscular dystrophy (see this term) 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.