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diagnóza 2
patofyziologie 2
enzymologie 1
genetika 1
MeSH Descriptor
Source: MeSH 2021 deskriptory
Main Heading
syndrom MERRF
English Heading
MERRF Syndrome
See
myoclonus epilepsy and ragged-red fibers
myoklonická epilepsie s „ragged red\ vlákny"
myoklonální epilepsie a roztrhaná červená vlákna
See
Fukuhara Disease [T051404]
Myoclonic Epilepsy with Ragged Red Fibers [T369455]
Fukuhara Syndrome [T369456]
Myoclonic Epilepsy and Ragged Red Fibers [T369457]
Myoclonus with Epilepsy with Ragged Red Fibers [T751061]
Myoencephalopathy Ragged-Red Fiber Disease [T751062]
Myoclonic Epilepsy Associated with Ragged-Red Fibers [T781492]
Myoclonic Epilepsy with Ragged-Red Fibers [T842097]
MERRF [T844175]
Preferred Concept
Mesh Scope Translators Note
Progresivní vrozená mitochondriální encefalomyopatie, způsobená mutací mitochondriální DNA. Onemocnění se manifestuje v kojeneckém nebo batolecím věku myoklonickou epilepsií a progresivní ataxií asociovanou s dysartrií a nystagmem. Postupně se rozvíjí demence, ztráta sluchu, periferní neuropatie a spasticita. Prognóza je nepříznivá. (cit. Velký lékařský slovník online, 2017 http://lekarske.slovniky.cz)
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)
History note
1993
Public Note
1993
Record number
D017243
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