MYOCLONIC EPILEPSY WITH RAGGED RED FIBERS
\mˌa͡ɪəklˈɒnɪk ˈɛpɪlˌɛpsi wɪð ɹˈaɡɪd ɹˈɛd fˈa͡ɪbəz], \mˌaɪəklˈɒnɪk ˈɛpɪlˌɛpsi wɪð ɹˈaɡɪd ɹˈɛd fˈaɪbəz], \m_ˌaɪ_ə_k_l_ˈɒ_n_ɪ_k ˈɛ_p_ɪ_l_ˌɛ_p_s_i w_ɪ_ð ɹ_ˈa_ɡ_ɪ_d ɹ_ˈɛ_d f_ˈaɪ_b_ə_z]\
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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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Nearby Words
- myoclonic encephalopathies
- myoclonic encephalopathy
- myoclonic epilepsies
- myoclonic epilepsy
- myoclonic epilepsy and ragged red fibers
- Myoclonic Epilepsy with Ragged Red Fibers
- myoclonic epilepsy, early childhood
- myoclonic epilepsy, infantile, benign
- myoclonic epilepsy, infantile, severe
- myoclonic jerk
- myoclonic jerking