FACIOSCAPULOHUMERAL MUSCULAR DYSTROPHY
\fˈe͡ɪsɪˌɒskɐpjˌʊlə͡ʊhjˌuːməɹə͡l mˈʌskjʊlə dˈɪstɹəfi], \fˈeɪsɪˌɒskɐpjˌʊləʊhjˌuːməɹəl mˈʌskjʊlə dˈɪstɹəfi], \f_ˈeɪ_s_ɪ__ˌɒ_s_k_ɐ_p_j_ˌʊ_l_əʊ_h_j_ˌuː_m_ə_ɹ_əl m_ˈʌ_s_k_j_ʊ_l_ə d_ˈɪ_s_t_ɹ_ə_f_i]\
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An autosomal dominant degenerative muscle disease characterized by slowly progressive weakness of the muscles of the face, upper-arm, and shoulder girdle. The onset of symptoms usually occurs in the first or second decade of life. Affected individuals usually present with impairment of upper extremity elevation. This tends to be followed by facial weakness, primarily involving the orbicularis oris and orbicuaris oculi muscles. (Neuromuscul Disord 1997;7 (1):55-62; Adams et al., Principles of Neurology, 6th ed, p1420)
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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.