MERRF Syndrome

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)

Also Known As:

Myoclonic Epilepsy and Ragged Red Fibers; Fukuhara Syndrome; MERRF; Myoclonic Epilepsy Associated with Ragged-Red Fibers; Myoclonic Epilepsy with Ragged-Red Fibers; Myoclonus with Epilepsy with Ragged Red Fibers; Myoencephalopathy Ragged-Red Fiber Disease; Myoclonic Epilepsy Associated with Ragged Red Fibers; Myoencephalopathy Ragged Red Fiber Disease; Syndrome, Fukuhara; Syndrome, MERRF; Fukuhara Disease; Myoclonic Epilepsy with Ragged Red Fibers

Musculoskeletal Diseases: 751
- Muscular Diseases: 10368
  - Mitochondrial Myopathies: 879
    - Mitochondrial Encephalomyopathies: 430
      - MERRF Syndrome: 338
Nervous System Diseases: 14737
- Central Nervous System Diseases: 4371
  - Brain Diseases: 16141
    - Epilepsy: 38749
      - Generalized Epilepsy: 907
        Myoclonic Epilepsies: 1240
        Progressive Myoclonic Epilepsies: 441
        MERRF Syndrome: 338
      - Epileptic Syndromes: 899
        Myoclonic Epilepsies: 1240
        Progressive Myoclonic Epilepsies: 441
        MERRF Syndrome: 338
    - Metabolic Brain Diseases: 218
      - Inborn Metabolic Brain Diseases: 2
        MERRF Syndrome: 338
- Neuromuscular Diseases: 2048
  - Muscular Diseases: 10368
    - Mitochondrial Myopathies: 879
      - Mitochondrial Encephalomyopathies: 430
        MERRF Syndrome: 338
Congenital, Hereditary, and Neonatal Diseases and Abnormalities: 960
- Inborn Genetic Diseases: 12342
  - Inborn Errors Metabolism: 1183
    - Inborn Metabolic Brain Diseases: 2
      - MERRF Syndrome: 338
Nutritional and Metabolic Diseases: 15
- Metabolic Diseases: 10634
  - Mitochondrial Diseases: 22985
    - Mitochondrial Myopathies: 879
      - Mitochondrial Encephalomyopathies: 430
        MERRF Syndrome: 338
  - Inborn Errors Metabolism: 1183
    - Inborn Metabolic Brain Diseases: 2
      - MERRF Syndrome: 338
  - Metabolic Brain Diseases: 218
    - Inborn Metabolic Brain Diseases: 2
      - MERRF Syndrome: 338

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