loading...| Preferred Name | MERRF Syndrome | |
| Synonyms |
Myoclonic Epilepsy with Ragged Red Fibers Myoclonic Epilepsy and Ragged Red Fibers Fukuhara Disease Fukuhara Syndrome |
|
| Definitions |
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). |
|
| ID |
http://uri.neuinfo.org/nif/nifstd/birnlex_12724 |
|
| alternative label |
Myoclonic Epilepsy with Ragged Red Fibers Myoclonic Epilepsy and Ragged Red Fibers Fukuhara Disease Fukuhara Syndrome |
|
| createdDate |
2007-10-08 |
|
| definingCitation |
Adams et al., Principles of Neurology, 6th ed, p986 |
|
| 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). |
|
| editorial note | ||
| externalSourceId |
D017243 |
|
| hasBirnlexCurator | ||
| hasCurationStatus | ||
| hasDefinitionSource | ||
| hasExternalSource | ||
| label |
MERRF Syndrome |
|
| MeshUid |
D017243 |
|
| modifiedDate |
2007-10-08 |
|
| note |
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). |
|
| preferred label |
MERRF Syndrome |
|
| Resource Identifier |
D017243 |
|
| synonym |
Myoclonic Epilepsy with Ragged Red Fibers Myoclonic Epilepsy and Ragged Red Fibers Fukuhara Disease Fukuhara Syndrome |
|
| subClassOf |
http://purl.obolibrary.org/obo/DOID_891 |