INFANTILE SPINAL MUSCULAR ATROPHY
\ˈɪnfəntˌa͡ɪl spˈa͡ɪnə͡l mˈʌskjʊləɹ ˈatɹəfi], \ˈɪnfəntˌaɪl spˈaɪnəl mˈʌskjʊləɹ ˈatɹəfi], \ˈɪ_n_f_ə_n_t_ˌaɪ_l s_p_ˈaɪ_n_əl m_ˈʌ_s_k_j_ʊ_l_ə_ɹ ˈa_t_ɹ_ə_f_i]\
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A group of recessively inherited diseases that feature progressive muscular atrophy and hypotonia. They are classified as type I (Werdnig-Hoffman disease), type II (intermediate form), and type III (Kugelberg-Welander disease). Type I is fatal in infancy, type II has a late infantile onset and is associated with survival into the second or third decade. Type III has its onset in childhood, and is slowly progressive. (J Med Genet 1996 Apr:33 (4):281-3)
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