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.
Publication types
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Case Reports
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Research Support, Non-U.S. Gov't
MeSH terms
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Adult
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Autoantibodies / blood*
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Electromyography
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Female
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Genetic Predisposition to Disease
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Glutamate Decarboxylase / immunology*
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Humans
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Infant
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Infant, Newborn
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Isoenzymes / immunology*
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Male
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Maternal-Fetal Exchange / immunology
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Middle Aged
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Pedigree
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Pregnancy
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Stiff-Person Syndrome* / diagnosis
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Stiff-Person Syndrome* / genetics
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Stiff-Person Syndrome* / immunology
Substances
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Autoantibodies
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Isoenzymes
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Glutamate Decarboxylase
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glutamate decarboxylase 2