Action myoclonus - renal failure syndrome

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.

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Aliases

• action myoclonus-renal failure syndrome
• action myoclonus-renal failure syndrome
• AMRF
• epilepsy, progressive myoclonic, 4, with or without renal failure
• EPM4
• myoclonus-nephropathy syndrome
• progressive myoclonic epilepsy type 4