DYSTONIA MUSCULORUM DEFORMANS
\dɪstˈə͡ʊni͡ə mˌʌskjʊlˈɔːɹəm dɪfˈɔːmənz], \dɪstˈəʊniə mˌʌskjʊlˈɔːɹəm dɪfˈɔːmənz], \d_ɪ_s_t_ˈəʊ_n_iə m_ˌʌ_s_k_j_ʊ_l_ˈɔː_ɹ_ə_m d_ɪ_f_ˈɔː_m_ə_n_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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Procollagen Proline Dioxygenase
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