Myoclonic epilepsy with ragged red fibers
Other Names for this Disease
- Merrf syndrome
- Myoclonic epilepsy associated with ragged red fibers
- Fukuhara syndrome
- Myoencephalopathy ragged-red fiber disease
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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. The diagnosis is based on clinical features and a muscle biopsy finding of ragged red fibers (RRF). 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. 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.Myoclonic epilepsy with ragged red fibers (MERRF) is a multisystem disorder characterized by
Last updated: 3/16/2016
- DiMauro, S. and Hirano, M. MERRF. GeneReviews. January 29, 2015; http://www.ncbi.nlm.nih.gov/books/NBK1520/.
- Myoclonic epilepsy with ragged-red fibers. Genetics Home Reference (GHR). May 2014; https://ghr.nlm.nih.gov/condition/myoclonic-epilepsy-with-ragged-red-fibers.
- The National Institute of Neurological Disorders and Stroke (NINDS) collects and disseminates research information related to neurological disorders. Click on the link to view information on this topic.
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- 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.
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