Atrofia muscular espinal: Caracterización clínica, electrofisiológica y molecular de 26 pacientes

Background: Spinal Muscular Atrophy (SMA) is an autosomal recessive disorder affecting the anterior horn cells of the spinal cord resulting in muscle weakness and atrophy, linked to the homozygous disruption of the survival motor neuron 1 (SMN1) gene. It is the leading genetic cause of infant death....

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Autores principales:	CASTIGLIONI,CLAUDIA, LEVICÁN,JORGE, RODILLO,ELIANA, GARMENDIA,MARÍA ANGÉLICA, DÍAZ,ALEJANDRA, PIZARRO,LORENA, CONTRERAS,LUIS
Lenguaje:	Spanish / Castilian
Publicado:	Sociedad Médica de Santiago 2011
Materias:	Electrophysiology Genetic testing Spinal muscular atrophies of childhood
Acceso en línea:	http://www.scielo.cl/scielo.php?script=sci_arttext&pid=S0034-98872011000200009
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spelling	oai:scielo:S0034-988720110002000092011-08-01Atrofia muscular espinal: Caracterización clínica, electrofisiológica y molecular de 26 pacientesCASTIGLIONI,CLAUDIALEVICÁN,JORGERODILLO,ELIANAGARMENDIA,MARÍA ANGÉLICADÍAZ,ALEJANDRAPIZARRO,LORENACONTRERAS,LUIS Electrophysiology Genetic testing Spinal muscular atrophies of childhood Background: Spinal Muscular Atrophy (SMA) is an autosomal recessive disorder affecting the anterior horn cells of the spinal cord resulting in muscle weakness and atrophy, linked to the homozygous disruption of the survival motor neuron 1 (SMN1) gene. It is the leading genetic cause of infant death. It has been classified into three types based on the severity of symptoms. Type I SMA is the most severe form with death within the first 2 years of life. Type II and III SMA patients show intermediate and mild forms of the disorder. Aim: To describe the clinical and electrophysiological findings of 26 Chilean patients with SMA with molecular confirmation. Patients and Methods: Retrospective multicenter analysis of patients with SMA assessed between 2003 and 2010. The diagnosis was suspected on clinical and electrophysiological criteria. Since 2006 molecular genetics confirmation was implemented in one of our centers. Results: Twenty-six patients between 2 months and 18 years of age at presentation were analyzed; 15 (58%) were males. SMA I, II and III clinical criteria were observed in 4 (15.4 %), 11 (42.3%) and 11 (42.3%)patients, respectively. All had proximal muscle weakness and atrophy. Electromyography showed features of acute denervation or re-innervation with normal motor and sensory nerve conduction. Nine patients required a muscle biopsy. The genetic confirmation of the disease by PCR technique followed by restriction fragment length polymorphism method disclosed the SMN1 gene deletion in all 26 cases. All patients died secondary to respiratory failure, between eight and 14 months of life. Conclusions: An adequate clinical and molecular diagnosis of spinal muscular atrophy will help for a better management of these patients.info:eu-repo/semantics/openAccessSociedad Médica de SantiagoRevista médica de Chile v.139 n.2 20112011-02-01text/htmlhttp://www.scielo.cl/scielo.php?script=sci_arttext&pid=S0034-98872011000200009es10.4067/S0034-98872011000200009
institution	Scielo Chile
collection	Scielo Chile
language	Spanish / Castilian
topic	Electrophysiology Genetic testing Spinal muscular atrophies of childhood
spellingShingle	Electrophysiology Genetic testing Spinal muscular atrophies of childhood CASTIGLIONI,CLAUDIA LEVICÁN,JORGE RODILLO,ELIANA GARMENDIA,MARÍA ANGÉLICA DÍAZ,ALEJANDRA PIZARRO,LORENA CONTRERAS,LUIS Atrofia muscular espinal: Caracterización clínica, electrofisiológica y molecular de 26 pacientes
description	Background: Spinal Muscular Atrophy (SMA) is an autosomal recessive disorder affecting the anterior horn cells of the spinal cord resulting in muscle weakness and atrophy, linked to the homozygous disruption of the survival motor neuron 1 (SMN1) gene. It is the leading genetic cause of infant death. It has been classified into three types based on the severity of symptoms. Type I SMA is the most severe form with death within the first 2 years of life. Type II and III SMA patients show intermediate and mild forms of the disorder. Aim: To describe the clinical and electrophysiological findings of 26 Chilean patients with SMA with molecular confirmation. Patients and Methods: Retrospective multicenter analysis of patients with SMA assessed between 2003 and 2010. The diagnosis was suspected on clinical and electrophysiological criteria. Since 2006 molecular genetics confirmation was implemented in one of our centers. Results: Twenty-six patients between 2 months and 18 years of age at presentation were analyzed; 15 (58%) were males. SMA I, II and III clinical criteria were observed in 4 (15.4 %), 11 (42.3%) and 11 (42.3%)patients, respectively. All had proximal muscle weakness and atrophy. Electromyography showed features of acute denervation or re-innervation with normal motor and sensory nerve conduction. Nine patients required a muscle biopsy. The genetic confirmation of the disease by PCR technique followed by restriction fragment length polymorphism method disclosed the SMN1 gene deletion in all 26 cases. All patients died secondary to respiratory failure, between eight and 14 months of life. Conclusions: An adequate clinical and molecular diagnosis of spinal muscular atrophy will help for a better management of these patients.
author	CASTIGLIONI,CLAUDIA LEVICÁN,JORGE RODILLO,ELIANA GARMENDIA,MARÍA ANGÉLICA DÍAZ,ALEJANDRA PIZARRO,LORENA CONTRERAS,LUIS
author_facet	CASTIGLIONI,CLAUDIA LEVICÁN,JORGE RODILLO,ELIANA GARMENDIA,MARÍA ANGÉLICA DÍAZ,ALEJANDRA PIZARRO,LORENA CONTRERAS,LUIS
author_sort	CASTIGLIONI,CLAUDIA
title	Atrofia muscular espinal: Caracterización clínica, electrofisiológica y molecular de 26 pacientes
title_short	Atrofia muscular espinal: Caracterización clínica, electrofisiológica y molecular de 26 pacientes
title_full	Atrofia muscular espinal: Caracterización clínica, electrofisiológica y molecular de 26 pacientes
title_fullStr	Atrofia muscular espinal: Caracterización clínica, electrofisiológica y molecular de 26 pacientes
title_full_unstemmed	Atrofia muscular espinal: Caracterización clínica, electrofisiológica y molecular de 26 pacientes
title_sort	atrofia muscular espinal: caracterización clínica, electrofisiológica y molecular de 26 pacientes
publisher	Sociedad Médica de Santiago
publishDate	2011
url	http://www.scielo.cl/scielo.php?script=sci_arttext&pid=S0034-98872011000200009
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Atrofia muscular espinal: Caracterización clínica, electrofisiológica y molecular de 26 pacientes

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