Action Myoclonus-renal Failure Syndrome

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.

Clinical Features

Top most frequent phenotypes and symptoms related to Action Myoclonus-renal Failure Syndrome

  • Seizures
  • Ataxia
  • Anemia
  • Peripheral neuropathy
  • Dysarthria
  • Tremor
  • Dysphagia
  • Cerebellar atrophy
  • Renal insufficiency
  • Thrombocytopenia

And another 22 symptoms. If you need more information about this disease we can help you.

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Incidence and onset information

— Currently we don't have prevalence information about this disease (Not enough data available about incidence and published cases.)
No data available about the known clinical features onset.

Alternative names

Action Myoclonus-renal Failure Syndrome Is also known as myoclonus-nephropathy syndrome, progressive myoclonic epilepsy type 4, epm4, amrf, action myoclonus-renal failure syndrome.

Researches and researchers

Doctors, researchs, and experts related to Action Myoclonus-renal Failure Syndrome extracted from public data.

Action Myoclonus-renal Failure Syndrome Experts map



Current Researchs and researchers

  • PORTO — Dr Maria Clara SÁ MIRANDA

    Responsible for diagnostic tests - Investigator of research project

    • Institution/s:
      — Instituto de Biologia Molecular e Celular
    • Research area/topic::

      LIMP-2 studies: from clinical genetics to functional genomics and back (studies in action myoclonus-renal failure syndrome (AMRF))



Mendelian

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Action Myoclonus-renal Failure Syndrome Recommended genes panels

Panel Name, Specifity and genes Tested/covered
Epilepsy Advanced Sequencing and CNV Evaluation - Generalized, Absence, Focal,Febrile and Myoclonic Epilepsies.

By Athena Diagnostics Inc (United States).

SCN1A, SCN1B, SCN2A, SCN3A, SCN5A, SCN9A, ST3GAL5, SLC2A1, SLC35A2, SLC6A1, SLC6A8, SUCLA2, SYNJ1, SLC4A10, CACNA1A, CACNA1H, CACNB4, PCDH19, SLC25A19, CASR , (...)

View the complete list with 64 more genes
Specificity
2 %
Genes
100 %
Epilepsy Advanced Sequencing and CNV Evaluation.

By Athena Diagnostics Inc (United States).

SCN1A, SCN1B, SCN2A, SCN3A, SCN5A, SCN8A, SCN9A, SHH, ST3GAL3, ST3GAL5, STIL, SIX3, SLC2A1, SLC35A2, SLC6A1, SLC6A8, SLC9A6, SMC1A, KDM5C, SMS , (...)

View the complete list with 214 more genes
Specificity
1 %
Genes
100 %
NGS Epilepsy/Seizure Panel.

By Greenwood Genetic Center Diagnostic Laboratories Greenwood Genetic Center (United States).

SCN1A, SCN1B, SCN2A, SCN5A, SCN8A, SCN9A, SHH, ST3GAL3, ST3GAL5, STIL, SIX3, SLC2A1, SLC35A2, SLC9A6, SNAP25, SPTAN1, CDKL5, STXBP1, SYN1, SYNGAP1 , (...)

View the complete list with 124 more genes
Specificity
1 %
Genes
100 %
Epilepsy/Seizure.

By Knight Diagnostic Laboratories - Molecular Diagnostic Center Oregon Health & Science University (United States).

SCN1A, SCN1B, SCN2A, SCN8A, SCN9A, SLC2A1, SLC6A8, SLC9A6, BTD, SPTAN1, CDKL5, STXBP1, SYN1, TSC1, TSC2, UBE3A, CNTNAP2, CACNA1A, CACNB4, ARHGEF9 , (...)

View the complete list with 78 more genes
Specificity
2 %
Genes
100 %
Ataxia Exome Panel.

By Genetic Services Laboratory University of Chicago (United States).

BCS1L, RTN2, SACS, SCN1A, SCN2A, SCN8A, SCO1, SDHA, SDHD, SLC16A2, SLC17A5, SLC19A2, SLC1A3, SLC20A2, SLC2A1, SLC6A1, SLC9A1, SLC9A6, SNAP25, SOD1 , (...)

View the complete list with 457 more genes
Specificity
1 %
Genes
100 %
Epilepsy Panel - Comprehensive.

By Molecular Genetics Laboratory Centro de Investigaciones Endocrinologicas "Dr. Cesar Bergada" (Argentina).

SCN1A, SCN1B, SCN2A, SCN8A, SCN9A, SLC2A1, SLC6A8, SLC9A6, SPTAN1, CDKL5, STXBP1, SUOX, SYNGAP1, TCF4, TSC1, TSC2, UBE3A, CNTNAP2, CERS1, PCDH19 , (...)

View the complete list with 49 more genes
Specificity
2 %
Genes
100 %
Comprehensive Epilepsy Panel.

By GeneDx (United States).

SCN1A, SCN1B, SCN2A, SCN8A, SLC2A1, SLC9A6, SPTAN1, CDKL5, STXBP1, SYN1, TCF4, TSC1, TSC2, UBE3A, CNTNAP2, CACNB4, PCDH19, ZEB2, DNAJC5, EFHC1 , (...)

View the complete list with 50 more genes
Specificity
2 %
Genes
100 %
Progressive Myoclonic Epilepsy Panel.

By GeneDx (United States).

DNAJC5, SCARB2, PRICKLE1, TPP1, CLN3, CLN5, CLN6, CLN8, NHLRC1, KCTD7, CSTB, CTSD, MFSD8, EPM2A, FOLR1, GOSR2, PPT1
Specificity
6 %
Genes
100 %

We have 45 more panels available in our App

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Sources and references

You can check the following sources for additional information.

ORPHANET OMIM Rare Disease Symptoms Checker

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