Rigid spine syndrome: case report

Rigid spine syndrome: case report

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.

Saved in:
Bibliographic Details
Main Authors: ZÉTOLA,VIVIANE H. FLUMIGNAN, SCOLA,ROSANA HERMÍNIA, RASKIN,SALMO, PREVENDELLO,DANIEL MONTE SERRAT, CORREA NETO,YLMAR, WERNECK,LINEU CESAR
Format: Digital revista
Language:English
Published: Academia Brasileira de Neurologia - ABNEURO 1998
Online Access:http://old.scielo.br/scielo.php?script=sci_arttext&pid=S0004-282X1998000500018
Tags: Add Tag
No Tags, Be the first to tag this record!
id oai:scielo:S0004-282X1998000500018
record_format ojs
spelling oai:scielo:S0004-282X19980005000182000-11-06Rigid spine syndrome: case reportZÉTOLA,VIVIANE H. FLUMIGNANSCOLA,ROSANA HERMÍNIARASKIN,SALMOPREVENDELLO,DANIEL MONTE SERRATCORREA NETO,YLMARWERNECK,LINEU CESAR rigid spine syndrome merosin dystrophin 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.info:eu-repo/semantics/openAccessAcademia Brasileira de Neurologia - ABNEUROArquivos de Neuro-Psiquiatria v.56 n.4 19981998-12-01info:eu-repo/semantics/reporttext/htmlhttp://old.scielo.br/scielo.php?script=sci_arttext&pid=S0004-282X1998000500018en10.1590/S0004-282X1998000500018
institution SCIELO
collection OJS
country Brasil
countrycode BR
component Revista
access En linea
databasecode rev-scielo-br
tag revista
region America del Sur
libraryname SciELO
language English
format Digital
author ZÉTOLA,VIVIANE H. FLUMIGNAN
SCOLA,ROSANA HERMÍNIA
RASKIN,SALMO
PREVENDELLO,DANIEL MONTE SERRAT
CORREA NETO,YLMAR
WERNECK,LINEU CESAR
spellingShingle ZÉTOLA,VIVIANE H. FLUMIGNAN
SCOLA,ROSANA HERMÍNIA
RASKIN,SALMO
PREVENDELLO,DANIEL MONTE SERRAT
CORREA NETO,YLMAR
WERNECK,LINEU CESAR
Rigid spine syndrome: case report
author_facet ZÉTOLA,VIVIANE H. FLUMIGNAN
SCOLA,ROSANA HERMÍNIA
RASKIN,SALMO
PREVENDELLO,DANIEL MONTE SERRAT
CORREA NETO,YLMAR
WERNECK,LINEU CESAR
author_sort ZÉTOLA,VIVIANE H. FLUMIGNAN
title Rigid spine syndrome: case report
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
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.
publisher Academia Brasileira de Neurologia - ABNEURO
publishDate 1998
url http://old.scielo.br/scielo.php?script=sci_arttext&pid=S0004-282X1998000500018
work_keys_str_mv AT zetolavivianehflumignan rigidspinesyndromecasereport
AT scolarosanaherminia rigidspinesyndromecasereport
AT raskinsalmo rigidspinesyndromecasereport
AT prevendellodanielmonteserrat rigidspinesyndromecasereport
AT correanetoylmar rigidspinesyndromecasereport
AT wernecklineucesar rigidspinesyndromecasereport
_version_ 1756374103663575040

Similar Items