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A 39-year-old woman presented to the emergency department with a 3-week history of worsening spasms in her axial and lower limb muscles and new-onset urinary retention. Sudden episodes of painful involuntary spasms first appeared in her abdominal muscles 2 weeks after a cold. Soon after, spasms spread to all of her axial muscles and both lower limbs. These paroxysmal episodes lasted a few seconds, occurred up to 20 times a day, and were exacerbated by external stimuli. There was no impairment of consciousness during the attacks. A review of her previous records revealed a diagnosis of Hashimoto thyroiditis 1 month earlier. She had no history of tobacco, alcohol, or drug use.
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D. Progressive encephalomyelitis with rigidity and myoclonus (PERM)
The patient’s severe clinical features included rigidity and painful spasms as well as persistent myoclonus that was associated with typical EMG features. These findings are highly suggestive of PERM. The diagnosis was further supported by positive serum testing results for anti–glutamic acid decarboxylase (GAD65) antibodies (>29.43 mg/dL; normal: <0.15 mg/dL; to convert to micromoles per liter, multiply by 67.967). Testing results for anti–glycine receptor (GlyR) and antiamphiphysin antibodies were negative.
First described by Whiteley et al,1 PERM represents a more severe clinical spectrum of stiff person spectrum disorder.2 In this patient, PERM can be distinguished from classic stiff person syndrome by prominent brainstem features, including myoclonus, oculomotor disorder, and a disturbance of respiratory rhythm. Her diffuse neurological symptoms, including encephalopathy (altered mental status), autonomic dysfunction (tachycardia and hyperhidrosis), and spinal cord involvement (urinary retention), also fit within the spectrum of PERM.
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CME Disclosure Statement: Unless noted, all individuals in control of content reported no relevant financial relationships. If applicable, all relevant financial relationships have been mitigated.
Corresponding Author: Sheng Chen, MD, PhD, Department of Neurology, Ruijin Hospital, Shanghai Jiao Tong University School of Medicine, Shanghai, China (firstname.lastname@example.org).
Published Online: March 9, 2020. doi:10.1001/jamaneurol.2020.0175
Conflict of Interest Disclosures: None reported.
Additional Contributions: We thank the patient for granting permission to publish this information. We also thank Robert L. Macdnoald, MD, PhD, Vanderbilt University, for comments on the manuscript. He was not compensated for his contributions.
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