CHILDHOOD TORSION DISEASE
\t͡ʃˈa͡ɪldhʊd tˈɔːʃən dɪzˈiːz], \tʃˈaɪldhʊd tˈɔːʃən dɪzˈiːz], \tʃ_ˈaɪ_l_d_h_ʊ_d t_ˈɔː_ʃ_ə_n d_ɪ_z_ˈiː_z]\
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A condition characterized by focal DYSTONIA that progresses to involuntary spasmodic contractions of the muscles of the legs, trunk, arms, and face. The hands are often spared, however, sustained axial and limb contractions may lead to a state where the body is grossly contorted. Onset is usually in the first or second decade. Familial patterns of inheritance, primarily autosomal dominant with incomplete pentrance, have been identified. (Adams et al., Principles of Neurology, 6th ed, p1078)
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Word of the day
Procollagen Proline Dioxygenase
- mixed-function oxygenase that catalyzes hydroxylation prolyl-glycyl-containing-peptide, usually in protocollagen, hydroxyprolylglycyl-peptide. The enzyme utilizes molecular oxygen with a concomitant oxidative decarboxylation of 2-oxoglutarate to succinate. EC 1.14.11.2.