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Stiff-person syndrome
Specialty	Neurology
Frequency	8e-05%

Stiff person syndrome (SPS) (or occasionally, stiff-man syndrome) is a rare neurologic disorder of unknown etiology.

History

SPS was first described by Moersch and Woltman at the Mayo Clinic in 1956 .

Postulated Causes

Because many patients with SPS have circulating antibodies to the enzyme glutamic acid decarboxylase (GAD), an autoimmune cause of the disease has been postulated. However, GAD antibodies cannot be the sole cause, as most Type I diabetics possess anti-GAD antibodies, yet the frequency of SPS among Type I diabetics is 1 in 10000.

Symptoms and prognosis

Those with the illness experience progressive, fluctuating tonic contractions of all muscles, particularly the axial musculature. An inability to walk and general paralysis quickly follow; death usually occurs six to twelve months after diagnosis.

MRI detection of GABA in the brain have demonstrated reduced levels in stiff-person syndrome.

Treatment

Treatment is mostly palliative with muscle relaxants which enhance GABA production such as benzodiazepines, which lose their effectiveness as the illness progresses. In the absence of double-blind, placebo-controlled class A trials to determine treatment efficacy, some authorities recommend humane trials of immunosuppressive therapy, plasmapheresis or intravenous immunoglobulin infusion.

References

• MOERSCH FP, WOLTMAN HW (1956). "Progressive fluctuating muscular rigidity and spasm ("stiff-man" syndrome); report of a case and some observations in 13 other cases". Mayo Clin Proc. 31 (15): 421–7. PMID 13350379.
• Murinson BB (2004). "Stiff-person syndrome". Neurologist. 10 (3): 131–7. PMID 15140273.
• Hampe C, Hammerle L, Bekris L, Ortqvist E, Kockum I, Rolandsson O, Landin-Olsson M, Törn C, Persson B, Lernmark A (2000). "Recognition of glutamic acid decarboxylase (GAD) by autoantibodies from different GAD antibody-positive phenotypes". J Clin Endocrinol Metab. 85 (12): 4671–9. PMID 11134126.{{cite journal}}: CS1 maint: multiple names: authors list (link)

1. The Stiff-Person Syndrome: An Autoimmune Disorder Affecting Neurotransmission of g-Aminobutyric Acid. Ann Intern Med. 1999;131:522-530. http://www.annals.org/cgi/reprint/131/7/522.pdf

See also

• Hyperekplexia

External links

• Neuroimmunology, The Medical School, Birmingham University - A site about the link between GAD and SPS
• stiffperson at NINDS
• Article at clevelandclinic.org
• Article at eNotes

• GAD antibodies
• Amphiphysin antibodies

• Neurological disorders
• Ailments of unknown etiology