PSEUDOHYPERTROPHIC CHILDHOOD MUSCULAR DYSTROPHY
\sˌuːdə͡ʊhˌa͡ɪpətɹˈɒfɪk t͡ʃˈa͡ɪldhʊd mˈʌskjʊlə dˈɪstɹəfi], \sˌuːdəʊhˌaɪpətɹˈɒfɪk tʃˈaɪldhʊd mˈʌskjʊlə dˈɪstɹəfi], \s_ˌuː_d_əʊ_h_ˌaɪ_p_ə_t_ɹ_ˈɒ_f_ɪ_k tʃ_ˈaɪ_l_d_h_ʊ_d m_ˈʌ_s_k_j_ʊ_l_ə d_ˈɪ_s_t_ɹ_ə_f_i]\
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An X-linked recessive muscle disease caused by an inability to synthesize DYSTROPHIN, which is involved with maintaining the integrity of the sarcolemma. Muscle fibers undergo a process that features degeneration and regeneration. Clinical manifestations include proximal weakness in the first few years of life, pseudohypertrophy, cardiomyopathy (see MYOCARDIAL DISEASES), and an increased incidence of impaired mentation. Becker muscular dystrophy is a closely related condition featuring a later onset of disease (usually adolescence) and a slowly progressive course. (Adams et al., Principles of Neurology, 6th ed, p1415)
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Nearby Words
- pseudohydrophobia
- pseudohyoscyamin
- pseudohyoscyamine
- pseudohyoseyamin
- pseudohypertrophic
- Pseudohypertrophic Childhood Muscular Dystrophy
- pseudohypertrophic dystrophy
- pseudohypertrophic muscular dystrophies
- pseudohypertrophic muscular dystrophy
- pseudohypertrophic muscular paralysis
- pseudohypertrophic paralysis