MERRF Syndrome

Synonyms

Fukuhara Disease

Fukuhara Syndrome

MERRF

Myoclonic Epilepsy Associated with Ragged Red Fibers

Myoclonic Epilepsy Associated with Ragged-Red Fibers

Myoclonic Epilepsy and 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

Syndrome, MERRF

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)