About Rigid Spine Muscular Dystrophy: Please search the web for more details. Rigid Spine Syndrome / Rigid Spine Muscular Dystrophy's cause is presently unclear but seems to have some relationship to a newly-found (2003) gene called SEPN-1/SEPN1. It is apparently a gene necessary for the proper production of a selenoprotein, which is found in fetuses and in the skeletal muscle of adult mice. In the case of the only patient I know with the condition, it caused a progressive backwards curvature of her neck, beginning at about age 8, and continuing until she must lay in a prone position, with her neck/head about 90 degrees backwards. She breathes on a ventilator and has contractures of her feet/ankles (she's tippie-toed like a ballerina, but, again, is in the prone position) and also weakness (muscle wasting) of the forearms and hands, and primary or secondary contractures of her fingers. She seems to have a mutation of a CGT to an AGT in amino 549, exon 14, but this is apparently outside of the actual coding region for the SEPN1 precursor product produced by the gene, so the results are confusing.

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