Abstract
Progressive encephalomyelitis with rigidity and myoclonus (PERM) is considered an aggressive variant of stiff-person spectrum disorders (SPSD). The typical clinical features of PERM are subacute onset of generalized stiffness and rigidity, as well as other brainstem features such as brainstem myoclonus including hyperekplexia, and encephalopathy. The most common autoantibodies associated with PERM are anti-glycine receptor, followed by anti-dipeptidyl-peptidase-like protein 6 (anti-DPPX) antibodies. The latter is usually associated with gastrointestinal symptoms, especially diarrhea. Patients with the PERM phenotype typically require early and aggressive treatment with immunotherapies. The PERM phenotype has a rare association with cancers.
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Progressive encephalomyelitis with rigidity and myoclonus (PERM). This video demonstrates a woman with subacute-onset encephalopathy over a week, along with diarrhea. On examination, she had prominent generalized rigidity, more prominent in axial muscles but also present in the extremities. In addition, there were also myoclonic jerks involving cranial, axial, and limb muscles, not demonstrated well in the video. She also had reflex myoclonus after auditory and tactile stimuli (not shown). She was treated with intravenous methylprednisolone and plasma exchange, with improvement in her symptoms including mental status, rigidity, and myoclonus. Anti-glycine receptor antibodies were negative in both serum and cerebrospinal fluids. (MP4 32,666 kb)
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Termsarasab, P., Thammongkolchai, T., Katirji, B. (2020). Progressive Encephalomyelitis with Rigidity and Myoclonus. In: Stiff-Person Syndrome and Related Disorders. Springer, Cham. https://doi.org/10.1007/978-3-030-43059-7_9
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DOI: https://doi.org/10.1007/978-3-030-43059-7_9
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