Treatment of stiff-person syndrome

Stiff-person syndrome (SPS) is characterized by (1) stiffness of truncal and limb muscles due to continuous co-contracture of agonist and antagonist muscles resulting in hyperlordosis, difficulty bending or turning, and slow, wide-based gait, (2) sudden spasms precipitated by unexpected noises and tactile or visual stimuli, and (3) overt anxiety with task-specific phobias. The symptoms vary in severity and can be fluctuating or fixed leading to disability in up to 65% of patients. SPS is an autoimmune disease with antibodies against (a) GAD-65, the enzyme responsible for synthesis of GABA, the brain’s main inhibitory neurotransmitter, (b) anti-glycine receptor, and (c) amphiphysin when paraneoplastic. The treatment begins with GABA-enhancing drugs such as diazepam, baclofen, and gabapentin, followed by immunotherapy. IVIg, proven effective in a controlled trial, is the first-in-line immunotherapy followed by rituximab and plasmapheresis. © 2019, Springer Nature Switzerland AG.