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Disease MERRF Syndrome

Name MERRF Syndrome
Synonyms Fukuhara Disease | Fukuhara Syndrome | MERRF | Myoclonic Epilepsy and Ragged Red Fibers | Myoclonic Epilepsy Associated with 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 | Myoencephalopathy Ragged-Red Fiber Disease | Syndrome, Fukuhara | Syndrome, MERRF
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)
Categories Genetic disease (inborn) | Metabolic disease | Musculoskeletal disease | Nervous system disease
MeSH® ID D017243
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Top ↑ Ancestors

1. DiseasesMusculoskeletal Diseases Has associated chemicals Has associated genes Has associated exposure references Muscular Diseases Has associated chemicals Has associated genes Mitochondrial Myopathies Has associated chemicals Has associated genes Mitochondrial Encephalomyopathies Has associated chemicals Has associated genes MERRF Syndrome Has associated chemicals Has associated genes
2. DiseasesNervous System Diseases Has associated chemicals Has associated genes Has associated exposure references Central Nervous System Diseases Has associated chemicals Has associated genes Has associated exposure references Brain Diseases Has associated chemicals Has associated genes Has associated exposure references Brain Diseases, Metabolic Has associated chemicals Has associated genes Brain Diseases, Metabolic, Inborn Has associated chemicals Has associated genes MERRF Syndrome Has associated chemicals Has associated genes
3. DiseasesNervous System Diseases Has associated chemicals Has associated genes Has associated exposure references Central Nervous System Diseases Has associated chemicals Has associated genes Has associated exposure references Brain Diseases Has associated chemicals Has associated genes Has associated exposure references Epilepsy Has associated chemicals Has associated genes Epilepsies, Myoclonic Has associated chemicals Has associated genes Myoclonic Epilepsies, Progressive Has associated chemicals Has associated genes MERRF Syndrome Has associated chemicals Has associated genes
4. DiseasesNervous System Diseases Has associated chemicals Has associated genes Has associated exposure references Neuromuscular Diseases Has associated chemicals Has associated genes Has associated exposure references Muscular Diseases Has associated chemicals Has associated genes Mitochondrial Myopathies Has associated chemicals Has associated genes Mitochondrial Encephalomyopathies Has associated chemicals Has associated genes MERRF Syndrome Has associated chemicals Has associated genes
5. DiseasesCongenital, Hereditary, and Neonatal Diseases and Abnormalities Has associated chemicals Has associated genes Has associated exposure references Genetic Diseases, Inborn Has associated chemicals Has associated genes Has associated exposure references Metabolism, Inborn Errors Has associated chemicals Has associated genes Has associated exposure references Brain Diseases, Metabolic, Inborn Has associated chemicals Has associated genes MERRF Syndrome Has associated chemicals Has associated genes
6. DiseasesNutritional and Metabolic Diseases Has associated chemicals Has associated genes Has associated exposure references Metabolic Diseases Has associated chemicals Has associated genes Has associated exposure references Brain Diseases, Metabolic Has associated chemicals Has associated genes Brain Diseases, Metabolic, Inborn Has associated chemicals Has associated genes MERRF Syndrome Has associated chemicals Has associated genes
7. DiseasesNutritional and Metabolic Diseases Has associated chemicals Has associated genes Has associated exposure references Metabolic Diseases Has associated chemicals Has associated genes Has associated exposure references Metabolism, Inborn Errors Has associated chemicals Has associated genes Has associated exposure references Brain Diseases, Metabolic, Inborn Has associated chemicals Has associated genes MERRF Syndrome Has associated chemicals Has associated genes
8. DiseasesNutritional and Metabolic Diseases Has associated chemicals Has associated genes Has associated exposure references Metabolic Diseases Has associated chemicals Has associated genes Has associated exposure references Mitochondrial Diseases Has associated chemicals Has associated genes Mitochondrial Myopathies Has associated chemicals Has associated genes Mitochondrial Encephalomyopathies Has associated chemicals Has associated genes MERRF Syndrome Has associated chemicals Has associated genes

Top ↑ Descendants

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