Action myoclonus-renal failure syndrome

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Synonyms: AMRF | EPM4 | Myoclonus-nephropathy syndrome | Progressive myoclonic epilepsy type 4 | Progressive myoclonus epilepsy type 4

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.

Data from Orphanet are used to provide information on a disease's name, synonym(s), and overview. Reference: Access aggregated data from Orphanet at Orphadata. Orphadata: Free access data from Orphanet. © INSERM 1999. Available on Data version May 2024

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