Stiff Person Spectrum Disorders—An Update and Outlook on Clinical, Pathophysiological and Treatment Perspectives

Abstract

Stiff person spectrum disorders (SPSD) are paradigm autoimmune movement disorders characterized by stiffness, spasms and hyperekplexia. Though rare, SPSD represent a not-to-miss diagnosis because of the associated disease burden and treatment implications. After decades as an enigmatic orphan disease, major advances in our understanding of the evolving spectrum of diseases have been made along with the identification of multiple associated autoantibodies. However, the most important recent developments relate to the recognition of a wider affection, beyond the classic core motor symptoms, and to further insights into immunomodulatory and symptomatic therapies. In this review, we summarize the recent literature on the clinical and paraclinical spectrum, current pathophysiological understanding, as well as current and possibly future therapeutic strategies.

The Effectiveness of Combining Botulinum Toxin Type A and Therapeutic Exercise in Treating Spasticity in a Patient with Complicated Stiff-Person Syndrome: A Case Report

“…Its estimated prevalence is 1–2 per million, with females being affected twice as often as males and without a clear predisposition for any race [ 3 ]. Usually, the anatomical parts affected by the pathology are the axial musculature, with the abdominal and paravertebral muscles involved as well as the proximal limbs, and it can, over time, lead to major skeletal deformities [ 4 ], causing disabilities with a significant psychological and social impact in the affected patients and forcing them to have frequent absences from work, which creates a huge impact on public spending [ 5 ]. Frequently, this condition is associated with anxiety and depression [ 6 ], which is why affected patients are usually directed to psychiatric physicians due to a failure in resolving the algic symptoms [ 7 ].…”