TORSION DYSTONIA
\tˈɔːʃən dɪstˈə͡ʊni͡ə], \tˈɔːʃən dɪstˈəʊniə], \t_ˈɔː_ʃ_ə_n d_ɪ_s_t_ˈəʊ_n_iə]\
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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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Dopamine Acetyltransferase
- An enzyme that catalyzes the of groups from acetyl-CoA to arylamines. They have wide specificity for aromatic amines, particularly serotonin, and can also catalyze acetyl transfer between arylamines without CoA. EC 2.3.1.5.