Clinically disparate stiff-person syndrome with GAD65 autoantibody in a father and daughter.
case_report · Level V
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- Record sourced from PubMed, PMID 14610143.
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Abstract
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.
Medical subject headings
- Autoantibodies
- Glutamate Decarboxylase
- Isoenzymes
- Stiff-Person Syndrome