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Nutritional and Metabolic Diseases > Metabolic Diseases > Brain Diseases, Metabolic > Brain Diseases, Metabolic, Inborn > MERRF Syndrome
... > Nervous System Diseases > Central Nervous System Diseases > Brain Diseases > Brain Diseases, Metabolic > Brain Diseases, Metabolic, Inborn > MERRF Syndrome
Congenital, Hereditary, and Neonatal Diseases and Abnormalities > Genetic Diseases, Inborn > Metabolism, Inborn Errors > Brain Diseases, Metabolic, Inborn > MERRF Syndrome
Nutritional and Metabolic Diseases > Metabolic Diseases > Metabolism, Inborn Errors > Brain Diseases, Metabolic, Inborn > MERRF Syndrome
Nutritional and Metabolic Diseases > Metabolic Diseases > Brain Diseases, Metabolic > Mitochondrial Encephalomyopathies > MERRF Syndrome
... > Nervous System Diseases > Central Nervous System Diseases > Brain Diseases > Brain Diseases, Metabolic > Mitochondrial Encephalomyopathies > MERRF Syndrome
Musculoskeletal Diseases > Muscular Diseases > Mitochondrial Myopathies > Mitochondrial Encephalomyopathies > MERRF Syndrome
... > Nervous System Diseases > Neuromuscular Diseases > Muscular Diseases > Mitochondrial Myopathies > Mitochondrial Encephalomyopathies > MERRF Syndrome
... > Nutritional and Metabolic Diseases > Metabolic Diseases > Mitochondrial Diseases > Mitochondrial Myopathies > Mitochondrial Encephalomyopathies > MERRF Syndrome
... > Nervous System Diseases > Central Nervous System Diseases > Brain Diseases > Epilepsy > Epileptic Syndromes > Epilepsies, Myoclonic > Myoclonic Epilepsies, Progressive > MERRF Syndrome
... > Nervous System Diseases > Central Nervous System Diseases > Brain Diseases > Epilepsy > Epilepsy, Generalized > Epilepsies, Myoclonic > Myoclonic Epilepsies, Progressive > MERRF Syndrome

Preferred term

MERRF Syndrome  

Type

  • mesh:Descriptor

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)

Broader concept

Entry terms

  • 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

Allowable Qualifier(s)

In other languages

  • Syndrome MERRF

    French

  • Épilepsie myoclonique à fibres rouges en lambeaux
  • Épilepsie myoclonique avec fibres rouges déchiquetées
  • Épilepsie myoclonique avec ragged-red-fibers
  • Syndrome de Fukuhara

URI

http://data.loterre.fr/ark:/67375/JVR-PJB3RDHS-9

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