En mitokondrieencefalomyopati, vars kliniska kännetecken är en blandning av krampanfall, myoklonus, tilltagande ataxi, spasmer och en lindrig myopati. Dysartri, optisk atrofi, hämmad växt, dövhet och demens kan även förekomma. Tillståndet visar sig som regel under barndomen och är genetiskt bunden till modern. Muskelbiopsier visar raggiga, röda fibrer och respiratoriska enzymdefekter.
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)
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Syndrome, MERRF — Myoclonic Epilepsy with Ragged Red Fibers — Fukuhara Syndrome — Syndrome, Fukuhara — MERRF — Myoclonus with Epilepsy with Ragged Red Fibers — Myoencephalopathy Ragged-Red Fiber Disease — Myoencephalopathy Ragged Red Fiber Disease — Myoclonic Epilepsy Associated with Ragged-Red Fibers — Myoclonic Epilepsy Associated with Ragged Red Fibers — Myoclonic Epilepsy with Ragged-Red Fibers — Fukuhara Disease — Myoclonic Epilepsy and Ragged Red Fibers