Action myoclonus-renal failure syndrome

Get in touch with RARE Concierge.

Contact RARE Concierge

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 http://www.orphadata.org. Data version May 2024

Newly diagnosed with
Action myoclonus-renal failure syndrome?

Our RARE Concierge Services Guides are available to assist you by providing information, resources and connections as you navigate your rare disease journey.

Get Concierge Help

Advocacy Organizations

Don't see your organization here. Let us know here.

Clinical Trials

For a list of clinical trials in this disease area, please click here.