Concept information
Nutritional and Metabolic Diseases
Metabolic Diseases
Brain Diseases, Metabolic
Mitochondrial Encephalomyopathies
...
Central Nervous System Diseases
Brain Diseases
Brain Diseases, Metabolic
Mitochondrial Encephalomyopathies
...
Neuromuscular Diseases
Muscular Diseases
Mitochondrial Myopathies
Mitochondrial Encephalomyopathies
Musculoskeletal Diseases
Muscular Diseases
Mitochondrial Myopathies
Mitochondrial Encephalomyopathies
...
Metabolic Diseases
Mitochondrial Diseases
Mitochondrial Myopathies
Mitochondrial Encephalomyopathies
Nutritional and Metabolic Diseases
Metabolic Diseases
Brain Diseases, Metabolic
Brain Diseases, Metabolic, Inborn
...
Central Nervous System Diseases
Brain Diseases
Brain Diseases, Metabolic
Brain Diseases, Metabolic, Inborn
Nutritional and Metabolic Diseases
Metabolic Diseases
Metabolism, Inborn Errors
Brain Diseases, Metabolic, Inborn
Preferred term
MERRF Syndrome
Type
-
Topical Descriptor
Broader concept
Entry terms
- 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
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
In other languages
-
Finnish
-
Fukuhara
-
Fukuharan tauti
-
MERFF
-
MERFF-syndrooma
-
morbus Fukuhara
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Swedish
URI
http://www.yso.fi/onto/mesh/D017243
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