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Updated: Mar 11, 2026

Characterization of Neuromuscular Junctions in Mice by Combined Confocal and Super-Resolution Microscopy
Published on: December 8, 2021
Presynaptic neuromuscular transmission defect in the stiff person syndrome
1Department of Neurology, National Neuroscience Institute, Singapore General Hospital, Outram Road, Academia Level 4, Singapore, 169608, Singapore. lo.yew.long@singhealth.com.sg.
Background:
The stiff person syndrome (SPS) is a rare disorder characterized by muscular rigidity and stiffness.
Case Presentations:
We 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.
Conclusions:
Our findings suggest that glutamic acid decarboxylase (GAD) antibodies may play a role in presynaptic neuromuscular transmission defect of SPS patients with fatigue.
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