Rigid spine syndrome: case report

Detalhes bibliográficos
Autor(a) principal: ZÉTOLA,VIVIANE H. FLUMIGNAN
Data de Publicação: 1998
Outros Autores: SCOLA,ROSANA HERMÍNIA, RASKIN,SALMO, PREVENDELLO,DANIEL MONTE SERRAT, CORREA NETO,YLMAR, WERNECK,LINEU CESAR
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=S0004-282X1998000500018
Resumo: We describe a patient who had difficulty in walking since toddling stage and presented proximal upper and lower member weakness which have evolved to a progressive limitation of neck and trunk flexure, compatible with rigid spine syndrome. The serum muscle enzymes were somewhat elevated and the electromyography showed a myopatic change. The muscle biopsy demonstrated an active and chronic myopathy. The DNA analysis through PCR did not display any abnormality for dystrophin gene. The dystrophin by immnofluorescence was present in all fibers, but some interruptions were found in the plasma membrane giving it the appearance of a rosary. The test for merosin was normal.
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spelling Rigid spine syndrome: case reportrigid spine syndromemerosindystrophinWe describe a patient who had difficulty in walking since toddling stage and presented proximal upper and lower member weakness which have evolved to a progressive limitation of neck and trunk flexure, compatible with rigid spine syndrome. The serum muscle enzymes were somewhat elevated and the electromyography showed a myopatic change. The muscle biopsy demonstrated an active and chronic myopathy. The DNA analysis through PCR did not display any abnormality for dystrophin gene. The dystrophin by immnofluorescence was present in all fibers, but some interruptions were found in the plasma membrane giving it the appearance of a rosary. The test for merosin was normal.Academia Brasileira de Neurologia - ABNEURO1998-12-01info:eu-repo/semantics/reportinfo:eu-repo/semantics/publishedVersiontext/htmlhttp://old.scielo.br/scielo.php?script=sci_arttext&pid=S0004-282X1998000500018Arquivos de Neuro-Psiquiatria v.56 n.4 1998reponame:Arquivos de neuro-psiquiatria (Online)instname:Academia Brasileira de Neurologiainstacron:ABNEURO10.1590/S0004-282X1998000500018info:eu-repo/semantics/openAccessZÉTOLA,VIVIANE H. FLUMIGNANSCOLA,ROSANA HERMÍNIARASKIN,SALMOPREVENDELLO,DANIEL MONTE SERRATCORREA NETO,YLMARWERNECK,LINEU CESAReng2000-11-06T00:00:00Zoai:scielo:S0004-282X1998000500018Revistahttp://www.scielo.br/anphttps://old.scielo.br/oai/scielo-oai.php||revista.arquivos@abneuro.org1678-42270004-282Xopendoar:2000-11-06T00:00Arquivos de neuro-psiquiatria (Online) - Academia Brasileira de Neurologiafalse
dc.title.none.fl_str_mv Rigid spine syndrome: case report
title Rigid spine syndrome: case report
spellingShingle Rigid spine syndrome: case report
ZÉTOLA,VIVIANE H. FLUMIGNAN
rigid spine syndrome
merosin
dystrophin
title_short Rigid spine syndrome: case report
title_full Rigid spine syndrome: case report
title_fullStr Rigid spine syndrome: case report
title_full_unstemmed Rigid spine syndrome: case report
title_sort Rigid spine syndrome: case report
author ZÉTOLA,VIVIANE H. FLUMIGNAN
author_facet ZÉTOLA,VIVIANE H. FLUMIGNAN
SCOLA,ROSANA HERMÍNIA
RASKIN,SALMO
PREVENDELLO,DANIEL MONTE SERRAT
CORREA NETO,YLMAR
WERNECK,LINEU CESAR
author_role author
author2 SCOLA,ROSANA HERMÍNIA
RASKIN,SALMO
PREVENDELLO,DANIEL MONTE SERRAT
CORREA NETO,YLMAR
WERNECK,LINEU CESAR
author2_role author
author
author
author
author
dc.contributor.author.fl_str_mv ZÉTOLA,VIVIANE H. FLUMIGNAN
SCOLA,ROSANA HERMÍNIA
RASKIN,SALMO
PREVENDELLO,DANIEL MONTE SERRAT
CORREA NETO,YLMAR
WERNECK,LINEU CESAR
dc.subject.por.fl_str_mv rigid spine syndrome
merosin
dystrophin
topic rigid spine syndrome
merosin
dystrophin
description We describe a patient who had difficulty in walking since toddling stage and presented proximal upper and lower member weakness which have evolved to a progressive limitation of neck and trunk flexure, compatible with rigid spine syndrome. The serum muscle enzymes were somewhat elevated and the electromyography showed a myopatic change. The muscle biopsy demonstrated an active and chronic myopathy. The DNA analysis through PCR did not display any abnormality for dystrophin gene. The dystrophin by immnofluorescence was present in all fibers, but some interruptions were found in the plasma membrane giving it the appearance of a rosary. The test for merosin was normal.
publishDate 1998
dc.date.none.fl_str_mv 1998-12-01
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=S0004-282X1998000500018
url http://old.scielo.br/scielo.php?script=sci_arttext&pid=S0004-282X1998000500018
dc.language.iso.fl_str_mv eng
language eng
dc.relation.none.fl_str_mv 10.1590/S0004-282X1998000500018
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.56 n.4 1998
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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