The relative frequency of common neuromuscular diagnoses in a reference center

Detalhes bibliográficos
Autor(a) principal: Cotta,Ana
Data de Publicação: 2017
Outros Autores: 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
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.
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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
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