Objective: Describe a case of Stiff Person Syndrome (SPS) treated with botulinum toxin injection and alert to the utility of botulinum toxin in this disorder.

Background: SPS is a rare autoimmune entity characterized by progressive muscle stiffness and spasticity involving predominantly axial and proximal limb muscles, leading to pain and gait impairment. Although the exact pathophysiology remains unknown, the most frequently identified antibodies are against GAD, glycineR, DPPX, GABA_AR, gephyrin and amphipysin.

Method: Case report.

Results: A 48-year-old woman with past medical history of Hashimoto’s thyroiditis, systemic lupus erythematosus and recent diagnosis of latent autoimmune diabetes in adults (LADA) with positive pancreatic autoantibodies (IA-2). She was admitted with an history of insidiously lower “back pain”, lumbar rigidity, episodic painful spasms, walking difficulty and inability to climb stairs.
On examination she had a board-like rigidity of paraspinal muscles (erectors of the spine), abnormal axial posture with increased lumbar hyperlordosis. Serum testing revealed elevated anti-GAD antibodies (>250 IU/mL), the lumbar MRI showed hyperlordosis and the brain MRI was unremarkable. A paraneoplastic origin was excluded through CT scan of the thorax, abdomen, mammography, and whole-body PET scan. The patient refused treatment with immunoglobulin IV. Treatment with baclofen and gabapentin was tried, but only provided partial relief. Botulinum neurotoxin type A-ABO was injected at three levels (L3–L5) into the paraspinal muscles bilaterally, 30-35 units in each point, for a total of 200 units. Within two weeks, the patient reported partial response. Six months later a second treatment was performed, and 500 units were applied. The patient had a marked reduction in muscle spasms along with significative improvement of ambulation. On examination a reduction in the board-like rigidity of paraspinal muscles was noted.
She was then able to practice Pilates and walk at least 30 minutes a day. The control EMG was normal.

Conclusion: Treatment with Botulinum toxin injection in this case was used with clear improvement. Some reports have validated the safety and utility of botulinum injections in this setting, yet botulinum remains underutilized.

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MDS Abstracts - https://www.mdsabstracts.org/abstract/successful-treatment-of-stiff-person-syndrome-with-botulinum-toxin/