Abstract
BackgroundThe stiff person syndrome (SPS) is a rare disorder characterized by muscular rigidity and stiffness.Case presentationsWe describe an SPS patient presenting with longstanding fatigue and electrophysiological evidence of presynaptic neuromuscular transmission defect, who responded to administration of pyridostigmine. In contrast, no electrophysiolgical evidence of neuromuscular transmission defect was demonstrated in 2 other SPS patients without fatigue symptoms.ConclusionsOur findings suggest that glutamic acid decarboxylase (GAD) antibodies may play a role in presynaptic neuromuscular transmission defect of SPS patients with fatigue.
Highlights
The stiff person syndrome (SPS) is a rare disorder characterized by muscular rigidity and stiffness
We describe an SPS patient presenting with longstanding fatigue and electrophysiological evidence of presynaptic neuromuscular transmission defect
Our series of 3 patients highlights the findings of presynaptic neuromuscular transmission defect in Patient 1, evidenced by symptomatic response to pyridostigmine and electrophysiological testing
Summary
The stiff person syndrome (SPS) is a rare disorder characterized by muscular rigidity and stiffness. Up to 80% [1] of SPS patients have elevated glutamic acid decarboxylase (GAD) antibodies, but its exact role in the pathogenesis remains unclear. Most SPS patients with GAD antibodies have antibodies which inhibit GABA-receptor-associated protein, leading to GABA functional impairment and the clinical features [4]. We describe an SPS patient presenting with longstanding fatigue and electrophysiological evidence of presynaptic neuromuscular transmission defect.
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