LANDOUZY DEJERINE DYSTROPHY
\lˈanduːzi dɪd͡ʒˈɛɹiːn dˈɪstɹəfi], \lˈanduːzi dɪdʒˈɛɹiːn dˈɪstɹəfi], \l_ˈa_n_d_uː_z_i d_ɪ_dʒ_ˈɛ_ɹ_iː_n 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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Word of the day
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.