Action myoclonus-renal failure syndrome
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 September 2023.
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Action myoclonus-renal failure syndrome?
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Advocacy Organizations
Project Sebastian
To support all people whom are suffering in rare diseases by offering support groups.
Mickie?s Miracles
To help families get into Level IV Pediatric Epilepsy Centers for diagnosis and treatment urgently -- and provide support to families for every season of the pediatric epilepsy journey.
Genetic Epilepsy Team Australia
Collaboration of research and care
Moonshots for Unicorns
Curing single-gene disorders
COMBINEDBrain Inc
COMBINEDBrain is a consortium for outcome measures and biomarkers for neurodevelopmental disorders. We are collaborating to cure rare, non-verbal brain disorders.
Syndromes Without A Name (SWAN) Australia
Provide information, support and advocacy to families caring for a child with an undiagnosed or rare genetic condition.
Help Hope Live
Help Hope Live assists individuals living with catastrophic injuries and illnesses to fundraise toward their medical expenses and related costs.
Clinical Trials
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