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Concept information

Preferred term

MERRF Syndrome  

Type

  • Topical Descriptor

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

URI

http://www.yso.fi/onto/mesh/D017243

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