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Diseases

Genetic and Rare Diseases Information Center (GARD)

Myoclonic epilepsy with ragged red fibers


Other Names for this Disease
  • Merrf syndrome
  • MERRF
  • Myoclonic epilepsy associated with ragged red fibers
  • Fukuhara syndrome
  • Myoencephalopathy ragged-red fiber disease
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Overview

Myoclonic epilepsy with ragged red fibers (MERRF) is a multisystem disorder characterized by myoclonus, which is often the first symptom, followed by generalized epilepsy, ataxia, weakness, and dementia. Symptoms usually first appear in childhood or adolescence after normal early development. The features of MERRF vary widely from individual to individual, even within families. Other common findings include hearing loss, short stature, optic atrophy, and cardiomyopathy with Wolff-Parkinson-White (WPW) syndrome.[1][2] The diagnosis is based on clinical features and a muscle biopsy finding of ragged red fibers (RRF).[1] In over 80% of cases, MERRF is caused by mutations in the mitochondrial gene called MT-TK. Several other mitochondrial genes have also been reported to cause MERRF, but many of the individuals with mutations in these other genes have additional signs and symptoms.[2] Seizures associated with MERRF are generally treated with conventional anticonvulsant therapy.  Coenzyme Q10 and L-carnitine are often used with the hope of improving mitochondrial function.[1]
Last updated: 3/16/2016

References

  1. DiMauro, S. and Hirano, M. MERRF. GeneReviews. January 29, 2015; http://www.ncbi.nlm.nih.gov/books/NBK1520/.
  2. Myoclonic epilepsy with ragged-red fibers. Genetics Home Reference (GHR). May 2014; https://ghr.nlm.nih.gov/condition/myoclonic-epilepsy-with-ragged-red-fibers.
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Basic Information

In Depth Information

  • Online Mendelian Inheritance in Man (OMIM) is a catalog of human genes and genetic disorders. Each entry has a summary of related medical articles. It is meant for health care professionals and researchers. OMIM is maintained by Johns Hopkins University School of Medicine. 
  • Orphanet is a European reference portal for information on rare diseases and orphan drugs. Access to this database is free of charge.
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Other Names for this Disease
  • Merrf syndrome
  • MERRF
  • Myoclonic epilepsy associated with ragged red fibers
  • Fukuhara syndrome
  • Myoencephalopathy ragged-red fiber disease
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.