Action myoclonus-renal failure syndrome
Action myoclonus-renal failure syndrome
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.
Also known as action myoclonus-renal failure syndrome, AMRF, epilepsy, progressive myoclonic 4, with or without renal failure, epilepsy, progressive myoclonic, 4, with or without renal failure, EPM4, myoclonus-nephropathy syndrome, progressive myoclonic epilepsy type 4 — per MONDO