Abstract
Objective: To report two cases of stiff-person syndrome (SPS) initially presenting as more common movement disorders.
Background: SPS is a rare disorder characterized by progressive muscle stiffness, spasms, and rigidity that may ultimately result in severe disability. Most cases are caused by antibodies to glutamic acid decarboxylase (GAD), with resultant disruption of GABA synthesis and impairment of inhibitory pathways in the central nervous system. Most commonly, cases present with thoracolumbar and abdominal muscle spasms. However, variants are increasingly appreciated, leading to the term “stiff person plus” to span more focal-onset stiff limb syndrome and other more diverse presentations.
Design/Methods: Case report
Results: We present two cases of SPS that initially presented with features of more common movement disorders. One patient presented with progressive gait difficulty following a GI illness and was noted to have a subtle dystonia of his right hand. His symptoms progressed to generalized parkinsonism, but was unresponsive to levodopa, leading to consideration of a corticobasal syndrome. He developed disabling rigidity with painful paraspinous muscle spasms, rendering him bed bound. Further work-up revealed markedly elevated serum anti-GAD antibody (210; normal< 0.02 nmol/L), and CSF studies revealed 9 oligoclonal bands and elevated IgG index. Another patient initially presented with foot dystonia. She was evaluated for Wilson’s disease and treated with onabotulinum toxin injections. In fact, psychogenic etiology was entertained. She continued to worsen and was eventually found to have elevated serum anti-GAD antibody (328; normal<1.0 U/ml) consistent with stiff limb syndrome. Her symptoms gradually generalized and she developed fixed ankle contractures and joint deformities.
Conclusions: SPS may present with features mimicking more common movement disorders. A high index of suspicion is needed in patients with unusual abnormal tone or movements. More research is needed to understand the inciting factors leading to autoimmunity and the variability in clinical presentation and response to therapies.
Disclosure: Dr. Stone has nothing to disclose. Dr. Kaye has nothing to disclose. Dr. Wicklund has nothing to disclose. Dr. Malaty has nothing to disclose.
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