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Stiff-person syndrome is a rare autoimmune disorder manifested by stiffness in the trunk and proximal limb muscles and painful muscle spasms in them. The disease is associated with the production of glutamate decarboxylase autoantibodies, an enzyme converting glutamate into gamma-aminobutyric acid. An increase of anti-GAD antibody serum levels above 10.000 IU/mL is specific for stiff-person syndrome. Our own clinical observation of a patient diagnosed with stiff-person syndrome is presented.
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Navigating the Complexity of Stiff Person Syndrome: A Case Report and Literature Review.
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November 2024
Family Medicine, Burrell College of Osteopathic Medicine, Las Cruces, USA.
Stiff person spectrum disorder is a disease that involves a host of conditions that are associated with glutamic acid decarboxylase 65-kilodalton isoform autoantibodies. These conditions may include diabetes mellitus type 1, pernicious anemia, autoimmune leukoencephalopathy, cerebellar ataxia, and stiff-person syndrome. Clinical recognition and diagnosis of stiff person spectrum disorder are important early, as immunologic treatment options showing reliable efficacy in slowing disease progression are available.
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From the Department of Neurology (P.D.C., S.S.), and Department of Biostatistics & Informatics (S.S.), University of Colorado Anschutz Medical Campus; University of Colorado School of Medicine Anschutz Medical Campus (R.D., P.W., E.E., B.V., E.M., K.V.N., A.M.C., A.L.P.); University of Colorado School of Medicine (R.F.), Aurora; School of Osteopathic Medicine (R.F.), Kanas City University, MO; University of Colorado School of Medicine Anschutz Medical Campus (R.V.C.); School of Medicine (R.V.C.), Aurora, CO; Renown Health (R.V.C.), Reno, NV; Rocky Mountain MS Center (K.V.N., A.L.P.), University of Colorado School of Medicine; and Skaggs School of Pharmacy and Pharmaceutical Sciences (K.V.N.), University of Colorado Anschutz Medical Campus, Aurora.
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