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Progressive encephalomyelitis with rigidity and myoclonus

Disease definition

A rare stiff person syndrome spectrum disorder characterized by limb and truncal rigidity, stimulus-sensitive spasms, myoclonus, hyperekplexia, autonomic disturbance, and brainstem involvement or other neurological defects. The condition is progressive and potentially life-threatening, especially due to respiratory failure. It may be associated with the presence of glycine receptor or glutamic acid decarboxylase antibodies, as well as thymomas or lymphomas.

ORPHA:438266

Classification level: Subtype of disorder
  • Synonym(s):
    • PERM
  • Prevalence: Unknown
  • Inheritance: Not applicable 
  • Age of onset: Adult, Infancy
  • ICD-10: G04.8
  • OMIM: 184850
  • UMLS: C1861457
  • MeSH: -
  • GARD: -
  • MedDRA: -

Detailed information

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The documents contained in this web site are presented for information purposes only. The material is in no way intended to replace professional medical care by a qualified specialist and should not be used as a basis for diagnosis or treatment.