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Action myoclonus-renal failure syndrome

Disease definition

Action myoclonus-renal failure syndrome (AMRF) is a rare epilepsy syndrome characterized by progressive myoclonus epilepsy in association with primary glomerular disease. Patients present with neurologic symptoms (including tremor, action myoclonus, tonic-clonic seizures, later ataxia and dysarthria) that may precede, occur simultaneously or be followed by renal manifestations including proteinuria that progresses to nephrotic syndrome and end-stage renal disease. In some patients, sensorimotor peripheral neuropathy, sensorineural hearing loss and dilated cardiomyopathy are associated symptoms.

ORPHA:163696

  • Synonym(s):
    • AMRF
    • EPM4
    • Myoclonus-nephropathy syndrome
    • Progressive myoclonic epilepsy type 4
    • Progressive myoclonus epilepsy type 4
  • Prevalence: <1 / 1 000 000
  • Inheritance: Autosomal recessive 
  • Age of onset: Adolescent, Adult
  • ICD-10: -
  • OMIM: 254900
  • UMLS: C0751779
  • MeSH: -
  • GARD: -
  • MedDRA: -

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