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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
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Facts about MERRF SyndromeRDF feed
Created8 October 2007  +
CurationStatusuncurated  +
DefiningCitationAdams et al., Principles of Neurology, 6th ed, p986  +
DefinitionA 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).
DefinitionSourceMeSH  +
Idbirnlex_12724  +
LabelMERRF Syndrome  +
ModifiedDate29 May 2009  +
SynonymMyoclonic Epilepsy and Ragged Red Fibers  +, Fukuhara Disease  +, Myoclonic Epilepsy with Ragged Red Fibers  +, and Fukuhara Syndrome  +
This page was last modified on 29 May 2009, at 06:59.This page has been accessed 282 times.