EMERY DREIFUSS MUSCULAR DYSTROPHY
\ˈɛməɹi dɹˈe͡ɪfʌs mˈʌskjʊlə dˈɪstɹəfi], \ˈɛməɹi dɹˈeɪfʌs mˈʌskjʊlə dˈɪstɹəfi], \ˈɛ_m_ə_ɹ_i d_ɹ_ˈeɪ_f_ʌ_s m_ˈʌ_s_k_j_ʊ_l_ə d_ˈɪ_s_t_ɹ_ə_f_i]\
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An X-linked recessive muscular dystrophy that may present in children or adults. The disease is characterized by a clinical triad: (1) CONTRACTURE of the elbows, ACHILLES TENDON, and posterior cervical muscles; (2) slowly progressive muscle atrophy and weakness; and (3) a cardiomyopathy usually presenting as an atrioventricular block (HEART BLOCK). The weakness initially affects the upper arm and chest muscles, followed by pelvic and leg muscle paresis. Sudden death (DEATH, SUDDEN, CARDIAC) may occur as the result of the cardiac conduction defect. (Adams et al., Principles of Neurology, 6th ed, p1419; Curr Opin Neurol 1997;10 (5):421-425)
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