MERRF Syndrome [syndrom MERRF]

topical
4
Terms

myoclonus epilepsy and ragged-red fibers
myoklonální epilepsie a roztrhaná červená vlákna
myoklonická epilepsie s "ragged red" vlákny

 

Fukuhara Disease
Fukuhara Syndrome
MERRF
Myoclonic Epilepsy and Ragged Red Fibers
Myoclonic Epilepsy Associated with 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

Persistent link   https://www.medvik.cz/link/D017243
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. (From Adams et al., Principles of Neurology, 6th ed, p986)

DUI
D017243 MeSH Browser
CUI
M0026164
Previous indexing
Epilepsy, Myoclonic (1980-1992); Mitochondria, Muscle (1980-1992)
History note
1993
Public note
1993

C Diseases
C05.651.460.620.520 MELAS Syndrome 17
C05.651.460.620.530 MERRF Syndrome 4
C10.228.140 Brain Diseases 1 183
C10.228.140.163 Brain Diseases, Metabolic 85
C10.228.140.163.100.084 Adrenoleukodystrophy 43
C10.228.140.163.100.168 Cerebral Amyloid Angiopathy, Familial 1
C10.228.140.163.100.320 Galactosemias 44
C10.228.140.163.100.355 Hartnup Disease 2
C10.228.140.163.100.360 Hepatolenticular Degeneration 243
C10.228.140.163.100.365 Homocystinuria 108
C10.228.140.163.100.375 Hyperglycinemia, Nonketotic 7
C10.228.140.163.100.380 Hyperlysinemias
C10.228.140.163.100.412 Leigh Disease 26
C10.228.140.163.100.425 Lesch-Nyhan Syndrome 20
C10.228.140.163.100.520 Maple Syrup Urine Disease 8
C10.228.140.163.100.535 MELAS Syndrome 17
C10.228.140.163.100.540 Menkes Kinky Hair Syndrome 12
C10.228.140.163.100.545 MERRF Syndrome 4
C10.228.140.163.100.593 Mevalonate Kinase Deficiency 16
C10.228.140.163.100.640 Oculocerebrorenal Syndrome 9
C10.228.140.163.100.687 Phenylketonurias 286
C10.228.140.163.100.813 Refsum Disease 6
C10.228.140.163.100.844 Refsum Disease, Infantile
C10.228.140.163.100.875 Tyrosinemias 18
C10.228.140.163.100.937 Urea Cycle Disorders, Inborn 7
C10.228.140.163.100.968 Zellweger Syndrome 10
C10.228.140.490 Epilepsy 3 266
C10.228.140.490.375 Epilepsy, Generalized 58
C10.228.140.490.375.130 Epilepsies, Myoclonic 46
C10.228.140.490.375.130.650 Myoclonic Epilepsies, Progressive 10
C10.228.140.490.375.130.650.500 Lafora Disease 1
C10.228.140.490.375.130.650.700 MERRF Syndrome 4
C10.228.140.490.375.130.650.900 Unverricht-Lundborg Syndrome 1
C10.228.140.490.493 Epileptic Syndromes 21
C10.228.140.490.493.063 Epilepsies, Myoclonic 46
C10.228.140.490.493.063.650 Myoclonic Epilepsies, Progressive 10
C10.228.140.490.493.063.650.500 Lafora Disease 1
C10.228.140.490.493.063.650.700 MERRF Syndrome 4
C10.228.140.490.493.063.650.900 Unverricht-Lundborg Syndrome 1
C10.668.491 Muscular Diseases 557
C10.668.491.500 Mitochondrial Myopathies 40
C10.668.491.500.500.500 MELAS Syndrome 17
C10.668.491.500.500.550 MERRF Syndrome 4
C16.320.565.189.084 Adrenoleukodystrophy 43
C16.320.565.189.320 Galactosemias 44
C16.320.565.189.355 Hartnup Disease 2
C16.320.565.189.360 Hepatolenticular Degeneration 243
C16.320.565.189.365 Homocystinuria 108
C16.320.565.189.375 Hyperglycinemia, Nonketotic 7
C16.320.565.189.380 Hyperlysinemias
C16.320.565.189.412 Leigh Disease 26
C16.320.565.189.425 Lesch-Nyhan Syndrome 20
C16.320.565.189.520 Maple Syrup Urine Disease 8
C16.320.565.189.535 MELAS Syndrome 17
C16.320.565.189.540 Menkes Kinky Hair Syndrome 12
C16.320.565.189.545 MERRF Syndrome 4
C16.320.565.189.593 Mevalonate Kinase Deficiency 16
C16.320.565.189.640 Oculocerebrorenal Syndrome 9
C16.320.565.189.687 Phenylketonurias 286
C16.320.565.189.813 Refsum Disease 6
C16.320.565.189.844 Refsum Disease, Infantile
C16.320.565.189.875 Tyrosinemias 18
C16.320.565.189.937 Urea Cycle Disorders, Inborn 7
C16.320.565.189.968 Zellweger Syndrome 10
C18.452 Metabolic Diseases 1 200
C18.452.132.100.084 Adrenoleukodystrophy 43
C18.452.132.100.320 Galactosemias 44
C18.452.132.100.355 Hartnup Disease 2
C18.452.132.100.360 Hepatolenticular Degeneration 243
C18.452.132.100.365 Homocystinuria 108
C18.452.132.100.375 Hyperglycinemia, Nonketotic 7
C18.452.132.100.380 Hyperlysinemias
C18.452.132.100.412 Leigh Disease 26
C18.452.132.100.425 Lesch-Nyhan Syndrome 20
C18.452.132.100.520 Maple Syrup Urine Disease 8
C18.452.132.100.535 MELAS Syndrome 17
C18.452.132.100.540 Menkes Kinky Hair Syndrome 12
C18.452.132.100.545 MERRF Syndrome 4
C18.452.132.100.593 Mevalonate Kinase Deficiency 16
C18.452.132.100.640 Oculocerebrorenal Syndrome 9
C18.452.132.100.687 Phenylketonurias 286
C18.452.132.100.813 Refsum Disease 6
C18.452.132.100.844 Refsum Disease, Infantile
C18.452.132.100.875 Tyrosinemias 18
C18.452.132.100.937 Urea Cycle Disorders, Inborn 7
C18.452.132.100.968 Zellweger Syndrome 10
C18.452.648.189.084 Adrenoleukodystrophy 43
C18.452.648.189.320 Galactosemias 44
C18.452.648.189.355 Hartnup Disease 2
C18.452.648.189.360 Hepatolenticular Degeneration 243
C18.452.648.189.365 Homocystinuria 108
C18.452.648.189.375 Hyperglycinemia, Nonketotic 7
C18.452.648.189.380 Hyperlysinemias
C18.452.648.189.412 Leigh Disease 26
C18.452.648.189.425 Lesch-Nyhan Syndrome 20
C18.452.648.189.520 Maple Syrup Urine Disease 8
C18.452.648.189.535 MELAS Syndrome 17
C18.452.648.189.540 Menkes Kinky Hair Syndrome 12
C18.452.648.189.545 MERRF Syndrome 4
C18.452.648.189.593 Mevalonate Kinase Deficiency 16
C18.452.648.189.640 Oculocerebrorenal Syndrome 9
C18.452.648.189.687 Phenylketonurias 286
C18.452.648.189.813 Refsum Disease 6
C18.452.648.189.844 Refsum Disease, Infantile
C18.452.648.189.875 Tyrosinemias 18
C18.452.648.189.937 Urea Cycle Disorders, Inborn 7
C18.452.648.189.968 Zellweger Syndrome 10
C18.452.660 Mitochondrial Diseases 160
C18.452.660.560 Mitochondrial Myopathies 40
C18.452.660.560.620.520 MELAS Syndrome 17
C18.452.660.560.620.530 MERRF Syndrome 4