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2015 ; 2015
(ä): 278065
Nephropedia Template TP
gab.com Text
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English Wikipedia
Stiff Person Syndrome: A Rare Neurological Disorder, Heterogeneous in Clinical
Presentation and Not Easy to Treat
#MMPMID26106494
Buechner S
; Florio I
; Capone L
Case Rep Neurol Med
2015[]; 2015
(ä): 278065
PMID26106494
show ga
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.