Merrf

Description

MERRF (Myoclonic Epilepsy with Ragged Red Fibers) syndrome is a mitochondrial encephalomyopathy characterized by myoclonic seizures.

Clinical Features

Top most frequent phenotypes and symptoms related to Merrf

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Short stature
  • Hearing impairment
  • Ataxia
  • Sensorineural hearing impairment
  • Muscle weakness
  • Muscular hypotonia
  • Spasticity

And another 90 symptoms. If you need more information about this disease we can help you.

Click here to know more about Mendelian.

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

Merrf Is also known as fukuhara syndrome, myoclonus epilepsy associated with ragged-red fibres, merrf syndrome.

Researches and researchers

Doctors, researchs, and experts related to Merrf extracted from public data.

Merrf Experts map



Current Researchs and researchers

  • SEVILLA — Dr Jose Antonio SÁNCHEZ ALCAZAR

    Investigator of research project

    • Institution/s:
      — Centro Andaluz de Biología del Desarrollo (CABD)
    • Research area/topic::

      New therapeutic targets in mitochondrial diseases


Merrf Recommended genes panels

Panel Name, Specifity and genes Tested/covered
Mitochondrial Neurogastrointestinal Encephalopathy (MNGIE) Evaluation (TYMP, RRM2B, MELAS).

By Athena Diagnostics Inc (United States).

RRM2B, TYMP, MT-TL1
Specificity
34 %
Genes
8 %
Progressive External Ophthalmoplegia Evaluation (POLG, TWINKLE, ANT1, OPA1, MELAS).

By Athena Diagnostics Inc (United States).

SLC25A4, TWNK, MT-TL1, OPA1, POLG
Specificity
20 %
Genes
8 %
Common Mitochondrial Disorders Evaluation (POLG, MELAS, MERRF, NARP).

By Athena Diagnostics Inc (United States).

MT-TK, MT-TL1, POLG
Specificity
67 %
Genes
16 %
MELAS mtDNA Evaluation.

By Athena Diagnostics Inc (United States).

MT-TL1
Specificity
100 %
Genes
8 %
Juvenile myopathy, encephalopathy, lactic acidosis AND stroke.

By Center for Human Genetics, Inc (United States).

MT-TL1
Specificity
100 %
Genes
8 %
OtoSCOPE.

By Molecular Otolaryngology and Renal Research Laboratories University of Iowa Hospital and Clinics (United States).

ROR1, SIX1, SIX5, SLC22A4, SNAI2, SMPX, SOX10, TBX1, TWNK, TCOF1, TECTA, TIMM8A, TJP2, TMPRSS3, USH1C, USH2A, CLRN1, TSPEAR, WFS1, ESPN , (...)

View the complete list with 130 more genes
Specificity
2 %
Genes
24 %
Comprehensive Mitochondrial Metabolic Panel.

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

BCS1L, SCO1, SCO2, SDHB, SDHC, SDHD, SLC22A5, SLC25A13, SLC25A15, SLC25A3, SLC25A4, BTD, SUCLA2, SUCLG1, SURF1, TAZ, TWNK, TCN2, TFAM, TIMM8A , (...)

View the complete list with 173 more genes
Specificity
6 %
Genes
85 %
Mitochondrial Genome Sequence.

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

MT-CO1, MT-CO2, MT-CO3, MT-CYB, MT-ND1, MT-ND2, MT-ND3, MT-ND4, MT-ND4L, MT-ND5, MT-ND6, MT-RNR1, MT-RNR2, MT-TA, MT-TC, MT-TD, MT-TE, MT-TF, MT-TG, MT-TH , (...)

View the complete list with 15 more genes
Specificity
32 %
Genes
85 %

You can get up to 120 more panels with our dedicated tool

Learn more

Sources and references

You can check the following sources for additional information.

MESH ORPHANET OMIM Rare Disease Symptoms Checker

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