The relative frequency of common neuromuscular diagnoses in a reference center
Autor(a) principal: | |
---|---|
Data de Publicação: | 2017 |
Outros Autores: | , , , , , , , , , , , |
Tipo de documento: | Artigo |
Idioma: | eng |
Título da fonte: | Arquivos de neuro-psiquiatria (Online) |
Texto Completo: | http://old.scielo.br/scielo.php?script=sci_arttext&pid=S0004-282X2017001100789 |
Resumo: | ABSTRACT The diagnostic procedure in neuromuscular patients is complex. Knowledge of the relative frequency of neuromuscular diseases within the investigated population is important to allow the neurologist to perform the most appropriate diagnostic tests. Objective: To report the relative frequency of common neuromuscular diagnoses in a reference center. Methods: A 17-year chart review of patients with suspicion of myopathy. Results: Among 3,412 examinations, 1,603 (46.98%) yielded confirmatory results: 782 (48.78%) underwent molecular studies, and 821 (51.21%) had muscle biopsies. The most frequent diagnoses were: dystrophinopathy 460 (28.70%), mitochondriopathy 330 (20.59%), spinal muscular atrophy 158 (9.86%), limb girdle muscular dystrophy 157 (9.79%), Steinert myotonic dystrophy 138 (8.61%), facioscapulohumeral muscular dystrophy 99 (6.17%), and other diagnoses 261 (16.28%). Conclusion: Using the presently-available diagnostic techniques in this service, a specific limb girdle muscular dystrophy subtype diagnosis was reached in 61% of the patients. A neuromuscular-appropriate diagnosis is important for genetic counseling, rehabilitation orientation, and early treatment of respiratory and cardiac complications. |
id |
ABNEURO-1_05fd1a985a288b02317f0e481b71a06c |
---|---|
oai_identifier_str |
oai:scielo:S0004-282X2017001100789 |
network_acronym_str |
ABNEURO-1 |
network_name_str |
Arquivos de neuro-psiquiatria (Online) |
repository_id_str |
|
spelling |
The relative frequency of common neuromuscular diagnoses in a reference centerdiagnosisneuromuscular diseasesbiopsyepidemiologyABSTRACT The diagnostic procedure in neuromuscular patients is complex. Knowledge of the relative frequency of neuromuscular diseases within the investigated population is important to allow the neurologist to perform the most appropriate diagnostic tests. Objective: To report the relative frequency of common neuromuscular diagnoses in a reference center. Methods: A 17-year chart review of patients with suspicion of myopathy. Results: Among 3,412 examinations, 1,603 (46.98%) yielded confirmatory results: 782 (48.78%) underwent molecular studies, and 821 (51.21%) had muscle biopsies. The most frequent diagnoses were: dystrophinopathy 460 (28.70%), mitochondriopathy 330 (20.59%), spinal muscular atrophy 158 (9.86%), limb girdle muscular dystrophy 157 (9.79%), Steinert myotonic dystrophy 138 (8.61%), facioscapulohumeral muscular dystrophy 99 (6.17%), and other diagnoses 261 (16.28%). Conclusion: Using the presently-available diagnostic techniques in this service, a specific limb girdle muscular dystrophy subtype diagnosis was reached in 61% of the patients. A neuromuscular-appropriate diagnosis is important for genetic counseling, rehabilitation orientation, and early treatment of respiratory and cardiac complications.Academia Brasileira de Neurologia - ABNEURO2017-11-01info:eu-repo/semantics/articleinfo:eu-repo/semantics/publishedVersiontext/htmlhttp://old.scielo.br/scielo.php?script=sci_arttext&pid=S0004-282X2017001100789Arquivos de Neuro-Psiquiatria v.75 n.11 2017reponame:Arquivos de neuro-psiquiatria (Online)instname:Academia Brasileira de Neurologiainstacron:ABNEURO10.1590/0004-282x20170151info:eu-repo/semantics/openAccessCotta,AnaPaim,Júlia FilardiCarvalho,Elmanoda-Cunha-Júnior,Antonio LopesNavarro,Monica M.Valicek,JaquelinMenezes,Miriam MeloNunes,Simone VilelaXavier-Neto,RafaelBaptista Junior,SidneyLima,Luciano RomeroTakata,Reinaldo IssaoVargas,Antonio Pedroeng2017-12-05T00:00:00Zoai:scielo:S0004-282X2017001100789Revistahttp://www.scielo.br/anphttps://old.scielo.br/oai/scielo-oai.php||revista.arquivos@abneuro.org1678-42270004-282Xopendoar:2017-12-05T00:00Arquivos de neuro-psiquiatria (Online) - Academia Brasileira de Neurologiafalse |
dc.title.none.fl_str_mv |
The relative frequency of common neuromuscular diagnoses in a reference center |
title |
The relative frequency of common neuromuscular diagnoses in a reference center |
spellingShingle |
The relative frequency of common neuromuscular diagnoses in a reference center Cotta,Ana diagnosis neuromuscular diseases biopsy epidemiology |
title_short |
The relative frequency of common neuromuscular diagnoses in a reference center |
title_full |
The relative frequency of common neuromuscular diagnoses in a reference center |
title_fullStr |
The relative frequency of common neuromuscular diagnoses in a reference center |
title_full_unstemmed |
The relative frequency of common neuromuscular diagnoses in a reference center |
title_sort |
The relative frequency of common neuromuscular diagnoses in a reference center |
author |
Cotta,Ana |
author_facet |
Cotta,Ana Paim,Júlia Filardi Carvalho,Elmano da-Cunha-Júnior,Antonio Lopes Navarro,Monica M. Valicek,Jaquelin Menezes,Miriam Melo Nunes,Simone Vilela Xavier-Neto,Rafael Baptista Junior,Sidney Lima,Luciano Romero Takata,Reinaldo Issao Vargas,Antonio Pedro |
author_role |
author |
author2 |
Paim,Júlia Filardi Carvalho,Elmano da-Cunha-Júnior,Antonio Lopes Navarro,Monica M. Valicek,Jaquelin Menezes,Miriam Melo Nunes,Simone Vilela Xavier-Neto,Rafael Baptista Junior,Sidney Lima,Luciano Romero Takata,Reinaldo Issao Vargas,Antonio Pedro |
author2_role |
author author author author author author author author author author author author |
dc.contributor.author.fl_str_mv |
Cotta,Ana Paim,Júlia Filardi Carvalho,Elmano da-Cunha-Júnior,Antonio Lopes Navarro,Monica M. Valicek,Jaquelin Menezes,Miriam Melo Nunes,Simone Vilela Xavier-Neto,Rafael Baptista Junior,Sidney Lima,Luciano Romero Takata,Reinaldo Issao Vargas,Antonio Pedro |
dc.subject.por.fl_str_mv |
diagnosis neuromuscular diseases biopsy epidemiology |
topic |
diagnosis neuromuscular diseases biopsy epidemiology |
description |
ABSTRACT The diagnostic procedure in neuromuscular patients is complex. Knowledge of the relative frequency of neuromuscular diseases within the investigated population is important to allow the neurologist to perform the most appropriate diagnostic tests. Objective: To report the relative frequency of common neuromuscular diagnoses in a reference center. Methods: A 17-year chart review of patients with suspicion of myopathy. Results: Among 3,412 examinations, 1,603 (46.98%) yielded confirmatory results: 782 (48.78%) underwent molecular studies, and 821 (51.21%) had muscle biopsies. The most frequent diagnoses were: dystrophinopathy 460 (28.70%), mitochondriopathy 330 (20.59%), spinal muscular atrophy 158 (9.86%), limb girdle muscular dystrophy 157 (9.79%), Steinert myotonic dystrophy 138 (8.61%), facioscapulohumeral muscular dystrophy 99 (6.17%), and other diagnoses 261 (16.28%). Conclusion: Using the presently-available diagnostic techniques in this service, a specific limb girdle muscular dystrophy subtype diagnosis was reached in 61% of the patients. A neuromuscular-appropriate diagnosis is important for genetic counseling, rehabilitation orientation, and early treatment of respiratory and cardiac complications. |
publishDate |
2017 |
dc.date.none.fl_str_mv |
2017-11-01 |
dc.type.driver.fl_str_mv |
info:eu-repo/semantics/article |
dc.type.status.fl_str_mv |
info:eu-repo/semantics/publishedVersion |
format |
article |
status_str |
publishedVersion |
dc.identifier.uri.fl_str_mv |
http://old.scielo.br/scielo.php?script=sci_arttext&pid=S0004-282X2017001100789 |
url |
http://old.scielo.br/scielo.php?script=sci_arttext&pid=S0004-282X2017001100789 |
dc.language.iso.fl_str_mv |
eng |
language |
eng |
dc.relation.none.fl_str_mv |
10.1590/0004-282x20170151 |
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.75 n.11 2017 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 |
_version_ |
1754212783123070976 |