FUKUHARA SYNDROME
\fjˌuːkjuːhˈɑːɹə sˈɪndɹə͡ʊm], \fjˌuːkjuːhˈɑːɹə sˈɪndɹəʊm], \f_j_ˌuː_k_j_uː_h_ˈɑː_ɹ_ə 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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Nearby Words
- fukala's operation
- fukien
- fukkianese
- fuklasin
- fukuhara disease
- Fukuhara Syndrome
- fukuoka
- ful
- ful'minate
- ful'minating
- ful(l)ness