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MERRF syndrome

The information provided on this page is for informational purposes only. The National Organization for Rare Disorders (NORD) does not endorse the information presented. The content has been gathered in partnership with the MONDO Disease Ontology. Please consult with a healthcare professional for medical advice and treatment.

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Disease Overview

A condition that can be caused by mutation(s) in more than one mitochondrial gene. It is characterized by myoclonic epilepsy and ragged-red fibers present on muscle biopsy.

Synonyms

  • Fukuhara syndrome
  • MERRF
  • MERRF syndrome
  • myoclonic epilepsy - ragged red fibers
  • myoclonic epilepsy - ragged red fibres
  • myoclonic epilepsy associated with ragged red fibers
  • myoclonic epilepsy associated with ragged red fibres
  • myoclonic epilepsy associated with ragged-RED fibers
  • myoclonic epilepsy associated with ragged-RED fibres
  • myoclonic epilepsy with ragged red fibers
  • myoclonic epilepsy with ragged red fibres
  • myoclonus epilepsy and ragged red fibers
  • myoclonus epilepsy and ragged red fibres
  • myoclonus epilepsy associated with ragged-red fibers
  • myoclonus epilepsy associated with ragged-red fibres
  • myoclonus with epilepsy and with ragged Red fibers
  • myoclonus with epilepsy and with ragged Red fibers (MERRF syndrome)
  • myoclonus with epilepsy and with ragged Red fibres
  • myoclonus with epilepsy and with ragged Red fibres (MERRF syndrome)
  • myoencephalopathy ragged-red fiber disease
  • myoencephalopathy ragged-red fibre disease
GARD Disease Summary

The Genetic and Rare Diseases Information Center (GARD) has information and resources for patients, caregivers, and families that may be helpful before and after diagnosis of this condition. GARD is a program of the National Center for Advancing Translational Sciences (NCATS), part of the National Institutes of Health (NIH).

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Orphanet

Orphanet has a summary about this condition that may include information on the diagnosis, care, and treatment as well as other resources. Some of the information and resources are available in languages other than English. The summary may include medical terms, so we encourage you to share and discuss this information with your doctor. Orphanet is the French National Institute for Health and Medical Research and the Health Programme of the European Union.

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OMIM

Online Mendelian Inheritance In Man (OMIM) has a summary of published research about this condition and includes references from the medical literature. The summary contains medical and scientific terms, so we encourage you to share and discuss this information with your doctor. OMIM is authored and edited at the McKusick-Nathans Institute of Genetic Medicine, Johns Hopkins University School of Medicine.

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