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Umbertina C. Reed 1. Objective: to discuss the most important aspects for performing a differential diagnosis among the main neuromuscular disorders in children, that include the diseases affecting the motor unity, i. In addition, it is based on Medline and on the review of the most recent numbers of Neuromuscular Disorders, the official journal of the World Muscle Society.
Summary of the findings: most of neuromuscular disorders are genetic conditions in children and the most common of them are X-linked Progressive Muscular Dystrophy of Duchenne, Spinal Muscular Atrophy, Congenital Muscular Dystrophy, Myotonic Dystrophy and Congenital Myopathies. Conclusions: due to the phenomenal development in human molecular genetics the pathogenesis of several neuromuscular disorders in children has been clarified over the last decade.
Nowadays many new diagnostic methods, including techniques of fetal diagnosis, and a more objective genotype-phenotype correlation as well as classification are available.
Amiotrofia espinal infantil AEI. Atualmente, conhecem-se pelo menos quatro genes implicados 2q22, nebulina; 1q22, alfa-tropomiosina; 9p13, beta-tropomiosina; 1q42, alfa-actina. Dubowitz V.
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