Congenital contractural arachnodactyly with neurogenic muscular atrophy: case report

Detalhes bibliográficos
Autor(a) principal: Scola,Rosana Herminia
Data de Publicação: 2001
Outros Autores: Werneck,Lineu Cesar, Iwamoto,Fabio Massaiti, Ribas,Letícia Cristine, Raskin,Salmo, Correa Neto,Ylmar
Tipo de documento: Relatório
Idioma: eng
Título da fonte: Arquivos de neuro-psiquiatria (Online)
Texto Completo: http://old.scielo.br/scielo.php?script=sci_arttext&pid=S0004-282X2001000200022
Resumo: We report the case of a 3-1/2-year-old girl with hypotonia, multiple joint contractures, hip luxation, arachnodactyly, adducted thumbs, dolichostenomelia, and abnormal external ears suggesting the diagnosis of congenital contractural arachnodactyly (CCA). The serum muscle enzimes were normal and the needle electromyography showed active and chronic denervation. The muscle biopsy demonstrated active and chronic denervation compatible with spinal muscular atrophy. Analysis of exons 7 and 8 of survival motor neuron gene through polymerase chain reaction did not show deletions. Neurogenic muscular atrophy is a new abnormality associated with CCA, suggesting that CCA is clinically heterogeneous.
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spelling Congenital contractural arachnodactyly with neurogenic muscular atrophy: case reportcongenital contractural arachnodactylyspinal muscular atrophymotor neuron diseasesurvival motor neuron geneWe report the case of a 3-1/2-year-old girl with hypotonia, multiple joint contractures, hip luxation, arachnodactyly, adducted thumbs, dolichostenomelia, and abnormal external ears suggesting the diagnosis of congenital contractural arachnodactyly (CCA). The serum muscle enzimes were normal and the needle electromyography showed active and chronic denervation. The muscle biopsy demonstrated active and chronic denervation compatible with spinal muscular atrophy. Analysis of exons 7 and 8 of survival motor neuron gene through polymerase chain reaction did not show deletions. Neurogenic muscular atrophy is a new abnormality associated with CCA, suggesting that CCA is clinically heterogeneous.Academia Brasileira de Neurologia - ABNEURO2001-06-01info:eu-repo/semantics/reportinfo:eu-repo/semantics/publishedVersiontext/htmlhttp://old.scielo.br/scielo.php?script=sci_arttext&pid=S0004-282X2001000200022Arquivos de Neuro-Psiquiatria v.59 n.2A 2001reponame:Arquivos de neuro-psiquiatria (Online)instname:Academia Brasileira de Neurologiainstacron:ABNEURO10.1590/S0004-282X2001000200022info:eu-repo/semantics/openAccessScola,Rosana HerminiaWerneck,Lineu CesarIwamoto,Fabio MassaitiRibas,Letícia CristineRaskin,SalmoCorrea Neto,Ylmareng2001-06-07T00:00:00Zoai:scielo:S0004-282X2001000200022Revistahttp://www.scielo.br/anphttps://old.scielo.br/oai/scielo-oai.php||revista.arquivos@abneuro.org1678-42270004-282Xopendoar:2001-06-07T00:00Arquivos de neuro-psiquiatria (Online) - Academia Brasileira de Neurologiafalse
dc.title.none.fl_str_mv Congenital contractural arachnodactyly with neurogenic muscular atrophy: case report
title Congenital contractural arachnodactyly with neurogenic muscular atrophy: case report
spellingShingle Congenital contractural arachnodactyly with neurogenic muscular atrophy: case report
Scola,Rosana Herminia
congenital contractural arachnodactyly
spinal muscular atrophy
motor neuron disease
survival motor neuron gene
title_short Congenital contractural arachnodactyly with neurogenic muscular atrophy: case report
title_full Congenital contractural arachnodactyly with neurogenic muscular atrophy: case report
title_fullStr Congenital contractural arachnodactyly with neurogenic muscular atrophy: case report
title_full_unstemmed Congenital contractural arachnodactyly with neurogenic muscular atrophy: case report
title_sort Congenital contractural arachnodactyly with neurogenic muscular atrophy: case report
author Scola,Rosana Herminia
author_facet Scola,Rosana Herminia
Werneck,Lineu Cesar
Iwamoto,Fabio Massaiti
Ribas,Letícia Cristine
Raskin,Salmo
Correa Neto,Ylmar
author_role author
author2 Werneck,Lineu Cesar
Iwamoto,Fabio Massaiti
Ribas,Letícia Cristine
Raskin,Salmo
Correa Neto,Ylmar
author2_role author
author
author
author
author
dc.contributor.author.fl_str_mv Scola,Rosana Herminia
Werneck,Lineu Cesar
Iwamoto,Fabio Massaiti
Ribas,Letícia Cristine
Raskin,Salmo
Correa Neto,Ylmar
dc.subject.por.fl_str_mv congenital contractural arachnodactyly
spinal muscular atrophy
motor neuron disease
survival motor neuron gene
topic congenital contractural arachnodactyly
spinal muscular atrophy
motor neuron disease
survival motor neuron gene
description We report the case of a 3-1/2-year-old girl with hypotonia, multiple joint contractures, hip luxation, arachnodactyly, adducted thumbs, dolichostenomelia, and abnormal external ears suggesting the diagnosis of congenital contractural arachnodactyly (CCA). The serum muscle enzimes were normal and the needle electromyography showed active and chronic denervation. The muscle biopsy demonstrated active and chronic denervation compatible with spinal muscular atrophy. Analysis of exons 7 and 8 of survival motor neuron gene through polymerase chain reaction did not show deletions. Neurogenic muscular atrophy is a new abnormality associated with CCA, suggesting that CCA is clinically heterogeneous.
publishDate 2001
dc.date.none.fl_str_mv 2001-06-01
dc.type.driver.fl_str_mv info:eu-repo/semantics/report
dc.type.status.fl_str_mv info:eu-repo/semantics/publishedVersion
format report
status_str publishedVersion
dc.identifier.uri.fl_str_mv http://old.scielo.br/scielo.php?script=sci_arttext&pid=S0004-282X2001000200022
url http://old.scielo.br/scielo.php?script=sci_arttext&pid=S0004-282X2001000200022
dc.language.iso.fl_str_mv eng
language eng
dc.relation.none.fl_str_mv 10.1590/S0004-282X2001000200022
dc.rights.driver.fl_str_mv info:eu-repo/semantics/openAccess
eu_rights_str_mv openAccess
dc.format.none.fl_str_mv text/html
dc.publisher.none.fl_str_mv Academia Brasileira de Neurologia - ABNEURO
publisher.none.fl_str_mv Academia Brasileira de Neurologia - ABNEURO
dc.source.none.fl_str_mv Arquivos de Neuro-Psiquiatria v.59 n.2A 2001
reponame:Arquivos de neuro-psiquiatria (Online)
instname:Academia Brasileira de Neurologia
instacron:ABNEURO
instname_str Academia Brasileira de Neurologia
instacron_str ABNEURO
institution ABNEURO
reponame_str Arquivos de neuro-psiquiatria (Online)
collection Arquivos de neuro-psiquiatria (Online)
repository.name.fl_str_mv Arquivos de neuro-psiquiatria (Online) - Academia Brasileira de Neurologia
repository.mail.fl_str_mv ||revista.arquivos@abneuro.org
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