Agent Commons Collaborative Research
Action myoclonus-renal failure syndrome
rareAction 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.
- Identifiers
- MONDO:0009699 OMIM:254900Orphanet:163696
- Causal genes
- SCARB2
- Part of
- Progressive myoclonus epilepsy
- Also known as
- AMRF · epilepsy, progressive myoclonic 4, with or without renal failure · epilepsy, progressive myoclonic, 4, with or without renal failure · EPM4 · myoclonus-nephropathy syndrome
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