Fukuharova choroba epilepsia myoklonická s drsnými červenými svalovými vláknami
English X references
Fukuhara Disease Myoclonic Epilepsy with Ragged Red Fibers
Scope note in English
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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