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Background <p>Stiff-Person Syndrome is a rare autoimmune disease of the central nervous system characterised by progressive stiffness of the axial muscles, due to the inadequate inhibition of excitatory neurotransmitters. The pathophysiology is considered to be a dysfunction of GABAergic (γ-aminobutyric acid) inhibitory pathways, leading to hyperexcitability at spinal interneuron and cortical levels, which causes impaired muscle relaxation (Hadavi et al. in Pract Neurol, 2011). The natural history of SPS is understudied and symptoms range from mild to severe progressive illness. Considering the rarity and different spectrum of presentation, diagnosis is difficult and often missed (Espay and Chen in Muscle Nerv 34:677–90, 2006). </p> Case presentation <p>We present a 60&#xa0;year-old Asian-origin gentleman with a 10&#xa0;year history of right lower limb weakness and paraspinal muscle spasms, and a 2&#xa0;month history of left lower limb weakness with jerky, intermittent, and painful spasms that left him bedridden. The absence of clinical improvement despite multiple negative workups elsewhere and an inconclusive diagnosis indicates a need for further evaluation and consideration of an alternative diagnosis. The clinical syndrome of insidious-onset spastic paraparesis, paraspinal muscle spasms, and myoclonic jerks without bladder involvement led to localization to the spinal cord. After a preliminary etiological screen and strong clinical localization alongside antibody testing, Stiff-Person Syndrome was suspected as an autoimmune disorder. The electromyogram response to benzodiazepines played a pivotal role in promptly confirming the diagnosis. The patient was commenced on appropriate therapy with muscle relaxants, immune modulation and rehabilitation, significantly improving symptoms. </p> Conclusion <p>Stiff Person Syndrome, a severe and disabling autoimmune disease, is often underdiagnosed or misdiagnosed. This case underscores the critical importance of early diagnosis based on clinical evaluation, immune markers and the prompt initiation of treatment to achieve significant clinical improvement. Diazepam response to Electromyography (EMG) played a crucial role in confirming the diagnosis of Stiff-Person Syndrome, reinforcing its significance as a diagnostic tool alongside antibody testing.</p>

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GAD-antibody-associated stiff-person syndrome: a case report

  • 期刊论文

  • 出版模式：

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  • 发表日期：

    2025年5月20日

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  • Renju Mathew Alex,
  • Aditya Vijayakrishnan Nair,
  • J. Brightlin,
  • Vignesh Kumar Chandiraseharan

摘要

Background

Stiff-Person Syndrome is a rare autoimmune disease of the central nervous system characterised by progressive stiffness of the axial muscles, due to the inadequate inhibition of excitatory neurotransmitters. The pathophysiology is considered to be a dysfunction of GABAergic (γ-aminobutyric acid) inhibitory pathways, leading to hyperexcitability at spinal interneuron and cortical levels, which causes impaired muscle relaxation (Hadavi et al. in Pract Neurol, 2011). The natural history of SPS is understudied and symptoms range from mild to severe progressive illness. Considering the rarity and different spectrum of presentation, diagnosis is difficult and often missed (Espay and Chen in Muscle Nerv 34:677–90, 2006).

Case presentation

We present a 60 year-old Asian-origin gentleman with a 10 year history of right lower limb weakness and paraspinal muscle spasms, and a 2 month history of left lower limb weakness with jerky, intermittent, and painful spasms that left him bedridden. The absence of clinical improvement despite multiple negative workups elsewhere and an inconclusive diagnosis indicates a need for further evaluation and consideration of an alternative diagnosis. The clinical syndrome of insidious-onset spastic paraparesis, paraspinal muscle spasms, and myoclonic jerks without bladder involvement led to localization to the spinal cord. After a preliminary etiological screen and strong clinical localization alongside antibody testing, Stiff-Person Syndrome was suspected as an autoimmune disorder. The electromyogram response to benzodiazepines played a pivotal role in promptly confirming the diagnosis. The patient was commenced on appropriate therapy with muscle relaxants, immune modulation and rehabilitation, significantly improving symptoms.

Conclusion

Stiff Person Syndrome, a severe and disabling autoimmune disease, is often underdiagnosed or misdiagnosed. This case underscores the critical importance of early diagnosis based on clinical evaluation, immune markers and the prompt initiation of treatment to achieve significant clinical improvement. Diazepam response to Electromyography (EMG) played a crucial role in confirming the diagnosis of Stiff-Person Syndrome, reinforcing its significance as a diagnostic tool alongside antibody testing.