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action myoclonus-renal failure syndrome

Disease Summary
Associated Targets (20)
Tbio

17

Tchem

2

Tclin

1


Mondo Description 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.
Uniprot Description An autosomal recessive progressive myoclonic epilepsy associated with renal failure in some cases. Cognitive function is preserved. Myoclonus is a brief, involuntary twitching of a muscle or a group of muscles.
Mondo Term and Equivalent IDs
MONDO:0009699:  action myoclonus-renal failure syndrome
Orphanet:163696: 
SCTID:764453009: