Rigid spine

Også kjent som: Rigid spine syndrome
Engelsk navn: Rigid spine syndrome
Engelske synonym: Rigid spine congenital muscular dystrophy


Definisjon

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.

Fra Orphanet

ORPHA: 97244
Klassifiseringsnivå: Disorder
ICD-10: G71.2

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