- Concept UI
- M0026164
- Scope 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. (From Adams et al., Principles of Neurology, 6th ed, p986)
- Terms
-
MERRF Syndrome
Preferred Term
Term UI
T051405
Date01/01/1999
LexicalTag
ACX
ThesaurusID
-
Myoclonic Epilepsy with Ragged Red Fibers
Term UI
T369455
Date11/03/1999
LexicalTag
NON
ThesaurusID
NLM (2000)
-
Fukuhara Syndrome
Term UI
T369456
Date11/03/1999
LexicalTag
EPO
ThesaurusID
-
Myoclonic Epilepsy and Ragged Red Fibers
Term UI
T369457
Date11/03/1999
LexicalTag
NON
ThesaurusID
NLM (2000)
-
Myoclonus with Epilepsy with Ragged Red Fibers
Term UI
T751061
Date05/13/2009
LexicalTag
NON
ThesaurusID
-
Myoencephalopathy Ragged-Red Fiber Disease
Term UI
T751062
Date05/13/2009
LexicalTag
NON
ThesaurusID
-
Myoclonic Epilepsy Associated with Ragged-Red Fibers
Term UI
T781492
Date12/01/2010
LexicalTag
NON
ThesaurusID
-
Myoclonic Epilepsy with Ragged-Red Fibers
Term UI
T842097
Date04/18/2013
LexicalTag
NON
ThesaurusID
GHR (2014)
-
Fukuhara Disease
Term UI
T051404
Date12/19/1991
LexicalTag
EPO
ThesaurusID
-
MERRF
Term UI
T844175
Date05/15/2013
LexicalTag
NON
ThesaurusID
GHR (2014)