JUVENILE NEUROAXONAL DYSTROPHY
\d͡ʒˈuːvənˌa͡ɪl njˈuːɹə͡ʊksˌɒnə͡l dˈɪstɹəfi], \dʒˈuːvənˌaɪl njˈuːɹəʊksˌɒnəl dˈɪstɹəfi], \dʒ_ˈuː_v_ə_n_ˌaɪ_l n_j_ˈuː_ɹ_əʊ_k_s_ˌɒ_n_əl d_ˈɪ_s_t_ɹ_ə_f_i]\
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A nonspecific term referring both to the pathologic finding of swelling of distal portions of axons in the brain and to disorders which feature this finding. Neuroaxonal dystrophy is seen in various genetic diseases, vitamin deficiencies, and aging. Infantile neuroaxonal dystrophy is an autosomal recessive disease characterized by arrested psychomotor development at 6 months to 2 years of age, ataxia, brain stem dysfunction, and quadriparesis. Juvenile and adult forms also occur. Pathologic findings include brain atrophy and widespread accumulation of axonal spheroids throughout the neuroaxis, peripheral nerves, and dental pulp. (From Davis & Robertson, Textbook of Neuropathology, 2nd ed, p927)
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Nearby Words
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- juvenile myoclonic epilepsies
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