E-mail: lucordeiro. Foram encontrados registros e, destes, selecionados Recomenda-se usar a Egen Klassifikation, a North Star Ambulatory Assessment e fazer o teste de caminhada de seis minutos. Se encontraron registros, de los cuales se seleccionaron Se recomienda emplear la Egen Klassifikation, la North Star Ambulatory Assessment y aplicar la prueba de caminata de seis minutos. Nenhum estudo foi identificado.

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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.

Muscle disorders in childhood. London: WB Saunders; Talbot K, Davies KE. Spinal muscular atrophy. Semin Neurol ; J Neurol Sci ; Spinal muscular atrophy - clinical and genetic correlations.

Neuromusc Disord ; Kim CA. Identification and characterization of a spinal muscular atrophy-determining gene. Cell ; Quantitative analysis of survival motor neuron copies: identification of subtle SMN1 mutations in patients with spinal muscular atrophy, genotype-phenotype correlation, and implications for genetic counseling.

Am J Hum Genet ; Wirth B. An update of the mutation spectrum of the survival motor neuron gene SMN1 in autosomal recessive spinal muscular atrophy SMA. Hum Mutat ; Brahe C. Copies of the survival motor neuron gene in spinal muscular atrophy: the more, the better.

Neuromuscul Disord ; Sendtner M. Molecular mechanisms in spinal muscular atrophy: models and perspectives. Curr Opin Neurol ; Roland LP. Molecular basis of genetic heterogeneity: role of the clinical neurologist. J Child Neurol ; North K. New perspectives in pediatric neuromuscular disorders. Chance PH. Molecular genetics of hereditary neuropathies. Childhood chronic inflammatory demyelinating polyneuropathy: clinical course and long-term outcome. Engel AG. Congenital myasthenic syndromes.

Engel AE. Quinidine sulfate therapy for the slow-channel congenital myasthenic syndrome. Ann Neurol ; Brooke MH. A selective review of muscular dystrophies.

Update on Neuromuscular diseases. Toronto: American Academy of Neurology; Making sense of the limb-girdle muscular dystrophies. Brain ; Fukuyama Y. Congenital muscular dystropies: an update. The saga of congenital muscular dystrophy. Neuropediatrics ; Muntoni F, Guicheney P. Reed UC. Heterogeneity of classic congenital muscular dystrophy with involvement of the central nervous system: report of five atypical cases.

Congenital Muscular Dystrophy with cerebral white matter hypodensity. Correlation of clinical features and merosin deficiency. Brain Dev ; Congenital Muscular Dystrophy with merosin deficiency. C R Acad Sci Paris ; Wewer UM, Engvall E. Neuromusc Disord ; Bornemann A, Goebel HH.

Congenital myopathies. Brain Pathol ; Clinical and genetic heterogeneity in autosomal recessive nemaline myopathy. Nebulin expression in patients with nemaline myopathy. Wallgren-Pettersson C. Molecular basis of myotonic dystrophy. Detection of an unstable fragment of DNA specific to individuals with myotonic dystrophy. Nature ; Genetic risks for children of women with myotonic dystrophy.

Am J Human Genet ; Metabolic myopathies: a clinical approach; part I. Pediatr Neurol ; Metabolic myopathies: a clinical approach; part II. Multiple presentation of mitochondrial disorders. Arch Dis Child ; Poulton J, Turnbull DM. Channelopathies: the nondystrophic myotonias and periodic paralyses. Semin Pediatr Neurol ; All the contents of this journal, except where otherwise noted, is licensed under a Creative Commons Attribution License.

Services on Demand Journal. Carlos Gomes, cj. How to cite this article.


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