Article
Clinically disparate stiff-person syndrome with GAD65 autoantibody in a father and daughter.
Neurology - 11 Nov 2003
Burns T M, Jones H R, Phillips L H, Bugawan T L, Erlich H A, Lennon V A
Abstract excerpt
Stiff-person syndrome (SPS) is a sporadic autoimmune disorder characterized by muscle stiffness with painful spasms and usually a high level of GAD65 antibody. The authors report familial SPS associated with GAD65 antibody. The clinical presentations were disparate; the father had an appendicular form of SPS and the daughter's axial SPS presented with episodic opisthotonos.
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