Highlights
- •Introducing the understanding of the pathophysiology of Stiff person syndrome.
- •Illustrating the classification of Stiff person syndrome.
- •Explaining the diagnostic steps for Stiff person syndrome.
- •Explaining the main features differentiating Stiff person syndrome from other similar disorders.
- •Introducing a step-wise therapeutic approach to Stiff person syndrome.
Abstract
Introduction
Stiff-person syndrome (SPS), first described in 1956 by Moersch and Woltman, is a
progressive autoimmune disorder with core features of chronic fluctuating progressive
truncal and limb rigidity and painful muscle spasms leading to gait difficulties,
falls and an appearance that resembles tin soldiers. The syndrome is a rare, highly
disabling disorder of the central nervous and frequently results in significant disability.
Understanding of the etiology, clinical spectrum, diagnostic workup and therapeutic
modalities for this painful and disabling disorder has vastly evolved over the past
few years with more confidence in classifying and treating the patients. The purpose
of this review is to increase the awareness, early detection, and treatment of this
disabling disease.
Method
PubMed was searched, all date inclusive, using the following phrases: stiff person
syndrome,anti-Glutamic acid decarboxylase (Anti-GAD) antibody syndrome, Progressive
encephalomyelitis with rigidity and myoclonus (PERM), and Paraneoplastic Stiff Person
syndrome. No filters or restrictions were used. A total of 888 articles were identified.
Results
The results were narrowed to 190 citations after excluding non-English and duplicate
reports. Clinical presentation, laboratory testing, treatment, and prognosis were
categorized and summarized.
Discussion
In this article we will discuss the epidemiology, presentation and classification.
Explain the pathophysiology of SPS and the autoimmune mechanisms involved. Discuss
the diagnostic approach and treatments available, as well as, the prognosis and outcome.
Keywords
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Article info
Publication history
Published online: July 17, 2019
Accepted:
June 17,
2019
Received in revised form:
May 31,
2019
Received:
November 4,
2018
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© 2019 Published by Elsevier B.V.
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- Molecular mechanisms responsible for Stiff-Person SyndromeJournal of the Neurological SciencesVol. 409
- PreviewStiff-person syndrome (SPS) is a rare progressive autoimmune disorder with marked neuromuscular involvement. Until the present, three main sub-types of SPS are known, namely the classic SPS, SPS variants which include focal, segmental and Jerky SPS and the paraneoplastic SPS [1] which all have diverse clinical presentations but the commonest symptoms include pain, disabling muscle stiffness, periodic muscular cramps and gait problems [2]. We are grateful to El-Abassi et [3] for their recently published article in September 2019 in The Journal of Neurological Sciences on stiff person syndrome.
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