CHOREOATHETOSIS SELF MUTILATION HYPERURICEMIA SYNDROME
\kˌɔːɹɪˌə͡ʊθɪtˈə͡ʊsɪs sˈɛlf mjˌuːtɪlˈe͡ɪʃən hˌa͡ɪpəɹˌʊ͡əɹa͡ɪsˈiːmi͡ə sˈɪndɹə͡ʊm], \kˌɔːɹɪˌəʊθɪtˈəʊsɪs sˈɛlf mjˌuːtɪlˈeɪʃən hˌaɪpəɹˌʊəɹaɪsˈiːmiə sˈɪndɹəʊm], \k_ˌɔː_ɹ_ɪ__ˌəʊ_θ_ɪ_t_ˈəʊ_s_ɪ_s s_ˈɛ_l_f m_j_ˌuː_t_ɪ_l_ˈeɪ_ʃ_ə_n h_ˌaɪ_p_ə_ɹ_ˌʊə_ɹ_aɪ_s_ˈiː_m_iə s_ˈɪ_n_d_ɹ_əʊ_m]\
Definitions of CHOREOATHETOSIS SELF MUTILATION HYPERURICEMIA SYNDROME
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An inherited disorder transmitted as a sex-linked trait and caused by a deficiency of an enzyme of purine metabolism; HYPOXANTHINE PHOSPHORIBOSYLTRANSFERASE. Affected individuals are normal in the first year of life and then develop psychomotor retardation, extrapyramidal movement disorders, progressive spasticity, and seizures. Self-destructive behaviors such as biting of fingers and lips are seen frequently. Intellectual impairment may also occur but is typically not severe. Elevation of uric acid in the serum leads to the development of renal calculi and gouty arthritis. (Menkes, Textbook of Child Neurology, 5th ed, pp127)
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Nearby Words
- choreiform
- choreiform movement
- choreiform movements
- choreiform spasm
- choreoathetoid
- Choreoathetosis Self Mutilation Hyperuricemia Syndrome
- choreoathetosis, pregnancy associated
- choreograph
- choreographer
- choreographic
- choreography