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Review
Stiff-person syndrome
  1. Smriti Bose1,
  2. Saiju Jacob1,2
  1. 1Neurology, University Hospitals Birmingham NHS Foundation Trust, Birmingham, UK
  2. 2University of Birmingham Institute of Immunology and Immunotherapy, Birmingham, UK
  1. Correspondence to Professor Saiju Jacob, Neurology, University Hospitals Birmingham NHS Foundation Trust, Birmingham, UK; saiju.jacob{at}uhb.nhs.uk

Abstract

Stiff-person syndrome (SPS) is an autoimmune disease associated mainly with antibodies to glutamic acid decarboxylase (GAD) or to glycine, characterised by intermittent painful spasms, stiffness and rigidity of the proximal and truncal muscles. Neuro-ophthalmological and gastrointestinal symptoms also occur. The symptoms are caused by neuronal excitability due to impaired inhibitory (gamma amino butyric acid [GABA] and glycine) neurotransmission. SPS is part of a larger spectrum of GAD antibody-spectrum disorders, which overlaps with autoimmune epilepsy, cerebellar ataxia, myoclonus, progressive encephalomyelitis, rigidity and myoclonus (PERM) and limbic encephalitis. PERM is often caused by antibodies against the glycine receptor. Some SPS cases are paraneoplastic. Diagnostic delay is often associated with irreversible disability, and therefore, clinicians need a high degree of clinical suspicion to make an earlier diagnosis. This review updates the various clinical presentations that should raise suspicion of SPS and its related conditions and includes a diagnostic algorithm and various treatment strategies including immunotherapy and GABA-ergic drugs.

  • STIFF MAN SYNDROME
  • NEUROIMMUNOLOGY

Data availability statement

No data are available.

https://doi.org/10.1136/pn-2023-003974

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    Data availability statement

    No data are available.

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    Footnotes

    • X @SmritiBose99194

    • Contributors Both authors have contributed equally to the concept, writing, revision and approval of the manuscript.

    • Funding The authors have not declared a specific grant for this research from any funding agency in the public, commercial or not-for-profit sectors.

    • Competing interests SJ has served as an international advisory board member for Alexion, Alnylam, Argenx, Immunovant, Janssen, Novartis, Regeneron and UCB pharmaceuticals, is currently an expert panel member of Myasthenia Gravis consortium for Argenx pharmaceuticals and has received speaker fees from Argenx, Eisai, Terumo BCT and UCB pharmaceuticals. He is also a board member (trustee) of the UK myasthenia patient charity, Myaware. None of these are relevant for the current manuscript.

    • Provenance and peer review Commissioned; externally peer reviewed by Jon Walters, Swansea, UK.

    • Supplemental material This content has been supplied by the author(s). It has not been vetted by BMJ Publishing Group Limited (BMJ) and may not have been peer-reviewed. Any opinions or recommendations discussed are solely those of the author(s) and are not endorsed by BMJ. BMJ disclaims all liability and responsibility arising from any reliance placed on the content. Where the content includes any translated material, BMJ does not warrant the accuracy and reliability of the translations (including but not limited to local regulations, clinical guidelines, terminology, drug names and drug dosages), and is not responsible for any error and/or omissions arising from translation and adaptation or otherwise.

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