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Descriptor English: MERRF Syndrome
Descriptor Spanish: Síndrome MERRF
Descriptor síndrome MERRF
Entry term(s) enfermedad de Fukuhara
epilepsia mioclónica con fibras rojas rotas
Scope note: Encefalomiopatía mitocondrial caracterizada clínicamente por un trastorno convulsivo mixto, mioclonias, ataxia progresiva, espasticidad, y una miopatía leve. Puede haber también disartria, atrofia óptica, retraso del crecimiento, sordera y demencia. Esta afección tiende a presentarse en la niñez y se transmite por línea materna. La biopsia muscular revela fibras musculares rojas rotas y defectos de las enzimas de la cadena respiratoria. (Adams et al., Principles of Neurology, 6th ed, p986)
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
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
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)
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
Previous Indexing: Epilepsy, Myoclonic (1980-1992)
Mitochondria, Muscle (1980-1992)
Public MeSH Note: 1993
History Note: 1993
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
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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