Stiff Person Syndrome: A Rare Neurological Disorder, Heterogeneous in Clinical Presentation and Not Easy to Treat

Abstract

Background. Stiff person syndrome (SPS) is a rare neurological disorder characterized by progressive rigidity of axial and limb muscles associated with painful spasms. SPS can be classified into classic SPS, paraneoplastic SPS, and SPS variants. Its underlying pathogenesis is probably autoimmune, as in most cases antibodies against glutamic acid decarboxylase (GAD) are observed. Similarly, paraneoplastic SPS is usually linked to anti-amphiphysin antibodies. Treatment is based on drugs enhancing gamma-aminobutyric acid (GABA) transmission and immunomodulatory agents. Case Series. Patient 1 is a 45-year-old male affected by the classic SPS, Patient 2 is a 73-year-old male affected by paraneoplastic SPS, and Patient 3 is a 68-year-old male affected by the stiff limb syndrome, a SPS variant where symptoms are confined to the limbs. Symptoms, diagnostic findings, and clinical course were extremely variable in the three patients, and treatment was often unsatisfactory and not well tolerated, thus reducing patient compliance. Clinical manifestations also included some unusual features such as recurrent vomiting and progressive dysarthria. Conclusions. SPS is a rare disorder that causes significant disability. Because of its extensive clinical variability, a multitask and personalized treatment is indicated. A clearer understanding of uncommon clinical features and better-tolerated therapeutic strategies are still needed.

A case of stiff dog syndrome associated with anti-glutamic acid decarboxylase antibodies

“…Though we are unable to demonstrate causation, SDS may have an association with anti-GAD antibodies, as do 80% of human cases of SPS [5, 6]. In this case, a satisfactory clinical outcome was achieved with treatment with centrally acting muscle relaxants, anticonvulsants, and immunosuppression.…”

Paraneoplastic Stiff Person Syndrome in Early-Stage Breast Cancer with Positive Anti-Amphiphysin Antibodies

“…SPS is divided into three forms: classic SPS, paraneoplastic SPS and variants [ 3 ]. The main clinical symptoms are muscle rigidity and spasms affecting predominantly truncal muscles [ 4 ].…”

“…The main clinical symptoms are muscle rigidity and spasms affecting predominantly truncal muscles [ 4 ]. Simultaneous activation of both agonist and antagonist paraspinal and abdominal muscles is present [ 3 ]. Therefore, lumbar hyperlordosis and postural instability are key symptoms in most patients with SPS [ 3 ].…”

“…Simultaneous activation of both agonist and antagonist paraspinal and abdominal muscles is present [ 3 ]. Therefore, lumbar hyperlordosis and postural instability are key symptoms in most patients with SPS [ 3 ]. Spasms appear intermittently, are usually spontaneous in nature but can be provoked by an unexpected noise, sudden movements or psychological stress [ 4 ].…”

“…Spasms appear intermittently, are usually spontaneous in nature but can be provoked by an unexpected noise, sudden movements or psychological stress [ 4 ]. Psychiatric involvement is quite common, including depression, anxiety, phobias, and panic attacks [ 3 ]. Imaging workup is usually with no specific findings [ 2 ], but it can help clinicians with differential diagnosis [ 4 ].…”