Descriptor English: | MERRF Syndrome | ||||||
Descriptor Spanish: |
Síndrome MERRF
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Descriptor Portuguese: | Síndrome MERRF | ||||||
Descriptor French: | Syndrome MERRF | ||||||
Entry term(s): |
Fukuhara Disease Fukuhara Syndrome MERRF Myoclonic Epilepsy Associated with Ragged Red Fibers Myoclonic Epilepsy Associated with Ragged-Red Fibers Myoclonic Epilepsy and Ragged Red Fibers Myoclonic Epilepsy with Ragged Red Fibers Myoclonic Epilepsy with Ragged-Red Fibers Myoclonus with Epilepsy with Ragged Red Fibers Myoencephalopathy Ragged Red Fiber Disease Myoencephalopathy Ragged-Red Fiber Disease Syndrome, Fukuhara Syndrome, MERRF |
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Tree number(s): |
C05.651.460.620.530 C10.228.140.163.100.545 C10.228.140.490.375.130.650.700 C10.228.140.490.493.063.650.700 C10.668.491.500.500.550 C16.320.565.189.545 C18.452.132.100.545 C18.452.648.189.545 C18.452.660.560.620.530 |
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RDF Unique Identifier: | https://id.nlm.nih.gov/mesh/D017243 | ||||||
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) |
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Allowable Qualifiers: |
BL blood CF cerebrospinal fluid CI chemically induced CL classification CO complications DG diagnostic imaging DH diet therapy DI diagnosis DT drug therapy EC economics EH ethnology EM embryology EN enzymology EP epidemiology ET etiology GE genetics HI history IM immunology ME metabolism MI microbiology MO mortality NU nursing PA pathology PC prevention & control PP physiopathology PS parasitology PX psychology RH rehabilitation RT radiotherapy SU surgery TH therapy UR urine VE veterinary VI virology |
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Previous Indexing: |
Epilepsy, Myoclonic (1980-1992) Mitochondria, Muscle (1980-1992) |
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Public MeSH Note: | 1993 |
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History Note: | 1993 |
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DeCS ID: | 30659 | ||||||
Unique ID: | D017243 | ||||||
Documents indexed in the Virtual Health Library (VHL): | Click here to access the VHL documents | ||||||
Date Established: | 1993/01/01 | ||||||
Date of Entry: | 1992/05/22 | ||||||
Revision Date: | 2017/02/24 |
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MERRF Syndrome
- Preferred
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) |
Preferred term | MERRF Syndrome |
Entry term(s) |
Fukuhara Disease Fukuhara Syndrome MERRF Myoclonic Epilepsy Associated with Ragged Red Fibers Myoclonic Epilepsy Associated with Ragged-Red Fibers Myoclonic Epilepsy and Ragged Red Fibers Myoclonic Epilepsy with Ragged Red Fibers Myoclonic Epilepsy with Ragged-Red Fibers Myoclonus with Epilepsy with Ragged Red Fibers Myoencephalopathy Ragged Red Fiber Disease Myoencephalopathy Ragged-Red Fiber Disease Syndrome, Fukuhara Syndrome, MERRF |
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