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Isaac syndrome

Disease definition

Isaac's syndrome is an immune-mediated peripheral motor neuron disorder characterized by continuous muscle fiber activity at rest resulting in muscle stiffness, cramps, myokymia, and pseudomyotonia.

ORPHA:84142

  • Synonym(s):
    • Acquired neuromyotonia
    • Continuous muscle fiber activity syndrome
    • Isaac-Mertens syndrome
    • Peripheral nerve hyperexcitability
    • Quantal squander syndrome
  • Prevalence: <1 / 1 000 000
  • Inheritance: -
  • Age of onset: All ages
  • ICD-10: G71.1
  • OMIM: -
  • UMLS: C0242287  C0751919
  • MeSH: -
  • GARD: 6793
  • MedDRA: -

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