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MERRF Syndrome
| Name: | MERRF Syndrome |
| Definition: | 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 (MeSH). |
| Synonym(s): | Myoclonic Epilepsy and Ragged Red Fibers, Fukuhara Disease, Myoclonic Epilepsy with Ragged Red Fibers, Fukuhara Syndrome |
| Super-category: | Progressive Myoclonic Epilepsy |
| Defining citation: | Adams et al., Principles of Neurology, 6th ed, p986 |
| Id: | birnlex_12724 |
| Link to OWL / RDF: | Download this content as OWL/RDF |
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| Created | 8 October 2007 + |
| CurationStatus | uncurated + |
| DefiningCitation | Adams et al., Principles of Neurology, 6th ed, p986 + |
| Definition | A mitochondrial encephalomyopathy characte … 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 (MeSH). espiratory chain enzymatic defects (MeSH). |
| DefinitionSource | MeSH + |
| Id | birnlex_12724 + |
| Label | MERRF Syndrome + |
| ModifiedDate | 29 May 2009 + |
| Synonym | Myoclonic Epilepsy and Ragged Red Fibers +, Fukuhara Disease +, Myoclonic Epilepsy with Ragged Red Fibers +, and Fukuhara Syndrome + |