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.
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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