PROGRESSIVE TORSION SPASM
\pɹəɡɹˈɛsɪv tˈɔːʃən spˈazəm], \pɹəɡɹˈɛsɪv tˈɔːʃən spˈazəm], \p_ɹ_ə_ɡ_ɹ_ˈɛ_s_ɪ_v t_ˈɔː_ʃ_ə_n s_p_ˈa_z_ə_m]\
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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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Proto Oncogene Proteins c erbB 2
- cell surface protein-tyrosine kinase that is found to be overexpressed in significant number adenocarcinomas. It has extensive homology can heterodimerize EGF EPIDERMAL GROWTH FACTOR), 3 receptor (RECEPTOR, 3) and the 4 receptor. Activation of erbB-2 receptor occurs during heterodimer formation with a ligand-bound erbB family members. EC 2.7.11.-.