Steinert’s Myotonic Dystrophy: medical expertise in the Social Security context
Autor(a) principal: | |
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Data de Publicação: | 2016 |
Outros Autores: | , , |
Tipo de documento: | Artigo |
Idioma: | por |
Título da fonte: | Saúde, Ética & Justiça (Online) |
Texto Completo: | https://www.revistas.usp.br/sej/article/view/134002 |
Resumo: | Steinert’s myotonic dystrophy (SMD) is the most common muscular dystrophy in adults with dominant autosomal inheritance caused by alteration in DMPK gene, in the 19q13.3 chromosome. This disease is characterized by variable penetrance and large variability in severity. Its main symptoms are myotonic phenomena, endocrinopathies, cardiac arrhythmia, cataract, sudden death, difficulty in moving limbs, among others. Studying SMD in the context of Social Security is essential for the medical examination team’s work, for the high quality examination and conduction of each case. The objective of this work is to study SMD in the context of Social Security. In order to do so, a case of SMD was reported of a 50 year old male bus driver, diagnosed with SMD 3 years before this work, who was examined by the medical experts and was pleading government illness aid. For the discussion of the case, the subject was researched in the SciELO and Pubmed databases with the descriptors: muscular dystrophy, forensic medicine, and social security. In the medical exam the person with SMD did not present systemic arterial hypertension, diabetes, cardiopathy, respiratory diseases or other comorbidities and was using carbamazepine, cyclobenzaprine, duloxetine and naproxen, all prescribed by his neurologist. During the physical exam, the only symptom he showed was the myotonic phenomenon in both hands. The myotonic phenomenon makes it difficult to control the steering wheel and change gears, which must be done fast in order to conduct the bus accordingly. The bus driver is considered partially and permanently disabled for his work, but he can be readapted to work in an administrative position, as a bus ticket checker or as a driver of adapted vehicles. |
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Steinert’s Myotonic Dystrophy: medical expertise in the Social Security contextDistrofia Miotônica de Steinert: aspecto pericial no âmbito previdenciárioMuscular DystrophiesForensic MedicineSocial Security.Distrofias MuscularesMedicina LegalPrevidência Social.Steinert’s myotonic dystrophy (SMD) is the most common muscular dystrophy in adults with dominant autosomal inheritance caused by alteration in DMPK gene, in the 19q13.3 chromosome. This disease is characterized by variable penetrance and large variability in severity. Its main symptoms are myotonic phenomena, endocrinopathies, cardiac arrhythmia, cataract, sudden death, difficulty in moving limbs, among others. Studying SMD in the context of Social Security is essential for the medical examination team’s work, for the high quality examination and conduction of each case. The objective of this work is to study SMD in the context of Social Security. In order to do so, a case of SMD was reported of a 50 year old male bus driver, diagnosed with SMD 3 years before this work, who was examined by the medical experts and was pleading government illness aid. For the discussion of the case, the subject was researched in the SciELO and Pubmed databases with the descriptors: muscular dystrophy, forensic medicine, and social security. In the medical exam the person with SMD did not present systemic arterial hypertension, diabetes, cardiopathy, respiratory diseases or other comorbidities and was using carbamazepine, cyclobenzaprine, duloxetine and naproxen, all prescribed by his neurologist. During the physical exam, the only symptom he showed was the myotonic phenomenon in both hands. The myotonic phenomenon makes it difficult to control the steering wheel and change gears, which must be done fast in order to conduct the bus accordingly. The bus driver is considered partially and permanently disabled for his work, but he can be readapted to work in an administrative position, as a bus ticket checker or as a driver of adapted vehicles. A distrofia miotônica de Steinert (DMS) é a doença genética degenerativa de acometimento muscular mais comum em adultos, com herança autossômica dominante por alteração do gene DMPK do cromossomo 19q13.3. Tal doença tem como características a penetrância variável e grande variação da severidade. Seus principais sintomas são fenômenos miotônicos, endocrinopatias, catarata, arritmias cardíacas, morte súbita, dificuldades de movimentação dos membros, dentre outros. Estudar os aspectos da DMS na esfera previdenciária é de suma importância no que tange à perícia médica. O objetivo deste trabalho foi estudar a DMS e sua implicação no âmbito previdenciário. Para tal, foi feito relato de caso de periciado de 50 anos de idade, sexo masculino, motorista de ônibus coletivo, diagnosticado com DMS há três anos que passou por perícia previdenciária pleiteando auxilio doença. Para o desenvolvimento da discussão do caso foi pesquisado o tema nas bases de dados SciELo e Pubmed, com os descritores: distrofias musculares, medicina legal, previdência social, (muscular distrophy, forensic medicine e social security). No caso em tela, o periciado não apresentava doença hipertensiva, diabetes, cardiopatia, doenças respiratórias ou outras comorbidades e fazia uso de omeprazol, ciclobenzaprina, duloxetina e naproxeno, receitados por seu neurologista. Durante exame físico médico pericial, foi encontrado como única alteração o fenômeno miotônico em mãos. Tal fenômeno influencia na condução adequada do ônibus por impedir ou dificultar a realização de manobras no volante, assim como prejudica a mudança de marcha em tempo hábil. Visto que os veículos da categoria C não são adaptáveis, o periciado encontrou-se incapacitado parcial e permanentemente, sendo adequada a reabilitação deste para conduzir veículos categoria B adaptados, desempenhar cargos administrativos ou a função de cobrador de ônibus.Universidade de São Paulo. Faculdade de Medicina. Departamento de Medicina Legal, Ética Médica e Medicina do Trabalho.2016-12-19info:eu-repo/semantics/articleinfo:eu-repo/semantics/publishedVersionRCapplication/pdfhttps://www.revistas.usp.br/sej/article/view/13400210.11606/issn.2317-2770.v21i2p67-71Saúde Ética & Justiça ; v. 21 n. 2 (2016); 67-712317-2770reponame:Saúde, Ética & Justiça (Online)instname:Universidade de São Paulo (USP)instacron:USPporhttps://www.revistas.usp.br/sej/article/view/134002/129821Copyright (c) 2017 Douglas Sani Pimenta, Márcio Antônio da Silva, Marcela Valério Braga, Carmen Silvia Moilles Galego Miziarainfo:eu-repo/semantics/openAccessPimenta, Douglas SaniSilva, Márcio Antônio daBraga, Marcela ValérioMiziara, Carmen Silvia Moilles Galego2018-01-08T15:39:30Zoai:revistas.usp.br:article/134002Revistahttps://www.revistas.usp.br/sej/indexPUBhttps://www.revistas.usp.br/sej/oairevistasej@fm.usp.br||2317-27701414-218Xopendoar:2018-01-08T15:39:30Saúde, Ética & Justiça (Online) - Universidade de São Paulo (USP)false |
dc.title.none.fl_str_mv |
Steinert’s Myotonic Dystrophy: medical expertise in the Social Security context Distrofia Miotônica de Steinert: aspecto pericial no âmbito previdenciário |
title |
Steinert’s Myotonic Dystrophy: medical expertise in the Social Security context |
spellingShingle |
Steinert’s Myotonic Dystrophy: medical expertise in the Social Security context Pimenta, Douglas Sani Muscular Dystrophies Forensic Medicine Social Security. Distrofias Musculares Medicina Legal Previdência Social. |
title_short |
Steinert’s Myotonic Dystrophy: medical expertise in the Social Security context |
title_full |
Steinert’s Myotonic Dystrophy: medical expertise in the Social Security context |
title_fullStr |
Steinert’s Myotonic Dystrophy: medical expertise in the Social Security context |
title_full_unstemmed |
Steinert’s Myotonic Dystrophy: medical expertise in the Social Security context |
title_sort |
Steinert’s Myotonic Dystrophy: medical expertise in the Social Security context |
author |
Pimenta, Douglas Sani |
author_facet |
Pimenta, Douglas Sani Silva, Márcio Antônio da Braga, Marcela Valério Miziara, Carmen Silvia Moilles Galego |
author_role |
author |
author2 |
Silva, Márcio Antônio da Braga, Marcela Valério Miziara, Carmen Silvia Moilles Galego |
author2_role |
author author author |
dc.contributor.author.fl_str_mv |
Pimenta, Douglas Sani Silva, Márcio Antônio da Braga, Marcela Valério Miziara, Carmen Silvia Moilles Galego |
dc.subject.por.fl_str_mv |
Muscular Dystrophies Forensic Medicine Social Security. Distrofias Musculares Medicina Legal Previdência Social. |
topic |
Muscular Dystrophies Forensic Medicine Social Security. Distrofias Musculares Medicina Legal Previdência Social. |
description |
Steinert’s myotonic dystrophy (SMD) is the most common muscular dystrophy in adults with dominant autosomal inheritance caused by alteration in DMPK gene, in the 19q13.3 chromosome. This disease is characterized by variable penetrance and large variability in severity. Its main symptoms are myotonic phenomena, endocrinopathies, cardiac arrhythmia, cataract, sudden death, difficulty in moving limbs, among others. Studying SMD in the context of Social Security is essential for the medical examination team’s work, for the high quality examination and conduction of each case. The objective of this work is to study SMD in the context of Social Security. In order to do so, a case of SMD was reported of a 50 year old male bus driver, diagnosed with SMD 3 years before this work, who was examined by the medical experts and was pleading government illness aid. For the discussion of the case, the subject was researched in the SciELO and Pubmed databases with the descriptors: muscular dystrophy, forensic medicine, and social security. In the medical exam the person with SMD did not present systemic arterial hypertension, diabetes, cardiopathy, respiratory diseases or other comorbidities and was using carbamazepine, cyclobenzaprine, duloxetine and naproxen, all prescribed by his neurologist. During the physical exam, the only symptom he showed was the myotonic phenomenon in both hands. The myotonic phenomenon makes it difficult to control the steering wheel and change gears, which must be done fast in order to conduct the bus accordingly. The bus driver is considered partially and permanently disabled for his work, but he can be readapted to work in an administrative position, as a bus ticket checker or as a driver of adapted vehicles. |
publishDate |
2016 |
dc.date.none.fl_str_mv |
2016-12-19 |
dc.type.driver.fl_str_mv |
info:eu-repo/semantics/article info:eu-repo/semantics/publishedVersion RC |
format |
article |
status_str |
publishedVersion |
dc.identifier.uri.fl_str_mv |
https://www.revistas.usp.br/sej/article/view/134002 10.11606/issn.2317-2770.v21i2p67-71 |
url |
https://www.revistas.usp.br/sej/article/view/134002 |
identifier_str_mv |
10.11606/issn.2317-2770.v21i2p67-71 |
dc.language.iso.fl_str_mv |
por |
language |
por |
dc.relation.none.fl_str_mv |
https://www.revistas.usp.br/sej/article/view/134002/129821 |
dc.rights.driver.fl_str_mv |
info:eu-repo/semantics/openAccess |
eu_rights_str_mv |
openAccess |
dc.format.none.fl_str_mv |
application/pdf |
dc.publisher.none.fl_str_mv |
Universidade de São Paulo. Faculdade de Medicina. Departamento de Medicina Legal, Ética Médica e Medicina do Trabalho. |
publisher.none.fl_str_mv |
Universidade de São Paulo. Faculdade de Medicina. Departamento de Medicina Legal, Ética Médica e Medicina do Trabalho. |
dc.source.none.fl_str_mv |
Saúde Ética & Justiça ; v. 21 n. 2 (2016); 67-71 2317-2770 reponame:Saúde, Ética & Justiça (Online) instname:Universidade de São Paulo (USP) instacron:USP |
instname_str |
Universidade de São Paulo (USP) |
instacron_str |
USP |
institution |
USP |
reponame_str |
Saúde, Ética & Justiça (Online) |
collection |
Saúde, Ética & Justiça (Online) |
repository.name.fl_str_mv |
Saúde, Ética & Justiça (Online) - Universidade de São Paulo (USP) |
repository.mail.fl_str_mv |
revistasej@fm.usp.br|| |
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1797053621598158848 |