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['Stiff-person'-syndrome].

R L Vogels1, N P van Orshoven, M A de Koning-Tijssen

  • 1St. Lucas-Andreas Ziekenhuis, afd. Neurologie, Postbus 9243, 1006 AE Amsterdam. r.vogels@slaz.nl

Nederlands Tijdschrift Voor Geneeskunde
|July 10, 2003
PubMed
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Stiff-person syndrome, a rare autoimmune central nervous system disorder, causes painful back and leg stiffness. Early diagnosis and treatment with medications like diazepam can manage symptoms effectively.

Area of Science:

  • Neurology
  • Immunology

Background:

  • Stiff-person syndrome is a rare autoimmune central nervous system disorder.
  • It is characterized by progressive muscle rigidity and painful spasms.

Observation:

  • Two patients, a 54-year-old male and a 49-year-old female, were diagnosed with stiff-person syndrome.
  • Clinical presentation included lower back pain, stiffness, hypertonia, and painful leg cramps.
  • Electromyography showed continuous muscle activity, responsive to diazepam.

Findings:

  • Antibodies to glutamic acid decarboxylase (GAD), an enzyme crucial for gamma-aminobutyric acid production, were found in 60% of patients.
  • This suggests an autoimmune attack on the GABAergic system.

Implications:

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  • Stiff-person syndrome is a treatable condition.
  • Consideration of this diagnosis is important for patients presenting with unexplained back and leg stiffness and pain.
  • Treatment involves diazepam, baclofen, and corticosteroids.