MERRF SYNDROME
\mˈɛrf sˈɪndɹə͡ʊm], \mˈɛrf sˈɪndɹəʊm], \m_ˈɛ_r_f s_ˈɪ_n_d_ɹ_əʊ_m]\
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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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SQ10,643
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