Stiff Young Woman

Background

The stiff person syndrome (SPS) is a rare autoimmune neurological disorder, featuring progressive stiffness and rigidity of the axial muscles (Rakocevic G et al. Muscle Nerve 2012; 45: 623). In most cases SPS is an idiopathic disease with a suspected prevalence of approximately one per million (Ciccoto G et al. Neurol Clin. 2013; 31: 319). However, in 5 – 10 % of cases it presents as paraneoplastic disease (Alexopoulos H et al. Eur J Clin Invest 2012; 40: 1018), mostly in patients with small-cell lung carcinoma, breast carcinoma and melanoma (Pittock SJ et al. Ann Neurol 2005; 58: 96). Autoantibodies against amphiphysin, and gephyrin muscles (Rakocevic G et al. Muscle Nerve 2012; 45: 623) are strongly associated with the secondary paraneoplastic form. While idiopathic stiff person syndrome usually develops over months and features typical GAD (glutamic acid decarboxylase) antibodies (Jung YJ et al. J Mov Disord. 2014; 7: 19), the paraneoplastic version features a subacute onset (Byrne TN et al. N Engl J Med. 2012; 367: 851). Clinical presentation ranges from stiffness and spasms in the thoracoabdominal spine and proximal legs, to a change in posture and gait, worsening chronic pain and even paralysis.