MERRF Syndrome (Myoclonic Epilepsy and Ragged Red Fibers)

A mitochondrial encephalomyopathy characterized clinically by a mixed seizure disorder, myoclonus, progressive ataxia, spasticity, and a mild myopathy. Dysarthria, optic atrophy, growth retardation, deafness, and dementia may also occur. This condition tends to present in childhood and to be transmitted via maternal lineage. Muscle biopsies reveal ragged-red fibers and respiratory chain enzymatic defects. (From Adams et al., Principles of Neurology, 6th ed, p986)
Also Known As:
Myoclonic Epilepsy and Ragged Red Fibers; Fukuhara Syndrome; Myoclonus with Epilepsy with Ragged Red Fibers; Myoencephalopathy Ragged-Red Fiber Disease; MERRF Syndromes; Myoencephalopathy Ragged Red Fiber Disease; Syndrome, Fukuhara; Syndrome, MERRF; Fukuhara Disease; Myoclonic Epilepsy with Ragged Red Fibers
Networked: 119 relevant articles (0 outcomes, 4 trials/studies)

Disease Context: Research Results

Related Diseases

1. Lactic Acidosis
2. Stroke (Strokes)
3. Mitochondrial Diseases (Mitochondrial Disease)
4. Chronic Progressive External Ophthalmoplegia (Progressive External Ophthalmoplegia)
5. Myoclonic Epilepsies (Myoclonic Encephalopathy)


1. Wei, Yau-Huei: 10 articles (04/2014 - 01/2002)
2. Ma, Yi-Shing: 7 articles (04/2014 - 01/2002)
3. Hsieh, Mingli: 4 articles (04/2014 - 09/2011)
4. Wu, Shi-Bei: 3 articles (04/2014 - 06/2010)
5. Chi, Tang-Hao: 3 articles (04/2014 - 09/2011)
6. Liu, Chin-San: 3 articles (12/2013 - 05/2005)
7. Filosto, Massimiliano: 3 articles (05/2013 - 03/2002)
8. Turnbull, Douglass M: 2 articles (06/2014 - 03/2009)
9. Taylor, Robert W: 2 articles (06/2014 - 03/2009)
10. Blakely, Emma L: 2 articles (06/2014 - 03/2009)

Drugs and Biologics

Drugs and Important Biological Agents (IBA) related to MERRF Syndrome:
1. Mitochondrial DNA (mtDNA)IBA
2. Lys Transfer RNAIBA
3. Superoxide DismutaseIBA
4. ZincIBA
5. Glutathione (Reduced Glutathione)IBA
6. CopperIBA
7. DNA (Deoxyribonucleic Acid)IBA
8. Mitochondrial encephalopathyIBA
03/01/1993 - "In the present case, the patient had a syndrome of both Mitochondrial Encephalopathy, Lactic Acidosis and Stroke like episodes (MELAS) and Myoclonic Epilepsy and Ragged Red Fibers (MERRF). "
04/01/1994 - "Some are well defined including the myoclonus epilepsy ragged red fibre syndrome (MERRF) and the mitochondrial encephalopathy lactic acidosis stroke like episode syndrome (MELAS). "
10/01/1992 - "The mitochondria become functionally defective when the amount of mutant mtDNA exceeds a certain threshold, which differs from mutation to mutation: 60 to 70% in chronic progressive external ophthalmoplegia (CPEO) and probably 95% in the syndromes of mitochondrial encephalopathy, myopathy, lactic acidosis, and stroke-like episodes (MELAS), and myoclonic epilepsy with ragged red fibers (MERRF). "
01/01/2006 - "There are several mitochondrial DNA (mtDNA) point mutations responsible for common mitochondrial diseases such as mitochondrial encephalopathy, lactic acidosis, stroke-like events, myoclonic epilepsy and ragged red fibers, neuropathy, ataxia, retinitis pigmentosa, and Leber's hereditary optic neuropathy. "
01/01/2012 - "There are a set of recurrent point mutations in the mitochondrial DNA (mtDNA) that are responsible for common mitochondrial diseases, including MELAS (mitochondrial encephalopathy, lactic acidosis, stroke-like episodes), MERRF (myoclonic epilepsy and ragged red fibers), LHON (Leber's hereditary optic neuropathy), NARP (neuropathy, ataxia, retinitis pigmentosa), and Leigh syndrome. "
9. Transfer RNA (tRNA)IBA
10. lysine- tRNAIBA

Therapies and Procedures

1. Epidural Anesthesia