Miopatia com corpos de Inclusão hereditária: revisão clínica e genética

  • Paulo Victor Sgobbi de Souza Division of Neuromuscular Diseases, Department of Neurology and Neurosurgery, Federal University of São Paulo (UNIFESP), São Paulo, SP, Brazil
  • Bruno de Mattos Lombardi Badia Division of Neuromuscular Diseases, Department of Neurology and Neurosurgery, Federal University of São Paulo (UNIFESP), São Paulo, SP, Brazil
  • Eduardo Augusto Gonçalves Division of Neuromuscular Diseases, Department of Neurology and Neurosurgery, Federal University of São Paulo (UNIFESP), São Paulo, SP, Brazil
  • Igor Braga Farias Division of Neuromuscular Diseases, Department of Neurology and Neurosurgery, Federal University of São Paulo (UNIFESP), São Paulo, SP, Brazil
  • Wladimir Bocca Vieira de Rezende Pinto UNIFESP
  • Acary Souza Bulle Oliveira Division of Neuromuscular Diseases, Department of Neurology and Neurosurgery, Federal University of São Paulo (UNIFESP), São Paulo, SP, Brazil
Palavras-chave: Miopatia com corpos de inclusão, neurogenética, miopatia vacuolar, miosite

Resumo

Introdução. Miosite com corpos de inclusão representa a miopatia adquirida mais comum na prática clínica de início após os 50 anos. Apesar da abordagem clássica de tal miopatia como condição clínica inflamatória, a base degenerativa muscular é considerada atualmente o principal mecanismo ligado a tais miopatias vacuolares. Formas hereditárias, embora raras, representam um grupo em expansão e pouco reconhecido na prática clínica. Objetivo. realizar revisão estruturada da literatura atual a respeito das formas hereditárias de miopatia com corpos de inclusão. Método. revisão das bases de dados da U.S. NLM PubMed e MEDLINE para análise de artigos originais, relatos de casos, series de casos e artigos de revisão incluindo os termos-chave “inclusion body myositis” OR “inclusion body myopathy” AND “genetics” OR “hereditary”. Resultados. Este manuscrito oferece amplo artigo de revisão da literatura a respeito dos principais aspectos clínicos, de imagem, fisiopatológicos, genéticos e terapêuticos relacionados a miopatias hereditárias ligadas a 7 apresentações clínicas e genéticas diferentes (GNE, MATR3, VCP, SQSTM1, MYH2, HNRNPA2B1 e HNRNPA1). Conclusão. Miopatia com corpo de inclusão hereditária se associa atualmente a pelo menos 7 formas clínico-genéticas monogênicas distintas.

Métricas

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Biografia do Autor

Wladimir Bocca Vieira de Rezende Pinto, UNIFESP

Médico neurologista formado na Universidade Federal de São Paulo (2006-2011) e Residência Médica em Neurologia Clínica na Universidade Federal de São Paulo (03/2012-02/2015). Título de Especialista em Neurologia pela Academia Brasileira de Neurologia (2015). Especialista em Doenças Neuromusculares pelo Setor de Investigações nas Doenças Neuromusculares da Universidade Federal de São Paulo (UNIFESP) (2016). Mestrado Acadêmico em Neurologia e Neurociências pela UNIFESP (2016-2018), sob a orientação do Prof. Dr. Acary Souza Bulle Oliveira. Doutorando do Programa de Neurologia e Neurociências do Departamento de Neurologia e Neurocirurgia da UNIFESP (2018-). Membro Titular da Academia Brasileira de Neurologia (ABN). Membro da Society for the Study of Inborn Errors of Metabolism (SSIEM). Membro da Sociedade Brasileira de Triagem Neonatal e Erros Inatos do Metabolismo (SBTEIM). Membro honorário da Associação de Paraparesia Espástica Hereditária do Brasil (ASPEH-Brasil). Membro da Diretoria/Conselho Administrativo da ABrELA (Associação Brasileira de Esclerose Lateral Amiotrófica), biênios 2016-2017, 2018-2019 e 2020-2021. Membro colaborador da Associação Brasileira dos Portadores de Charcot-Marie-Tooth (ABCMT). Membro do corpo clínico neurológico dos Hospitais: Hospital Israelita Albert Einstein (HIAE), Hospital Alemão Oswaldo Cruz (HAOC), Hospital São Paulo (HSP), Hospital Santa Cruz, Hospital Nove de Julho. Possui interesse nos seguintes temas: neurogenética, Doenças Neuromusculares, Doença do Neurônio Motor, Esclerose Lateral Amiotrófica, miopatias metabólicas, doenças neurometabólicas hereditárias, Erros Inatos do Metabolismo, Miopatias MItocondriais, Paraparesias Espásticas Hereditárias (HSP/SPG), Doença de Charcot-Marie-Tooth (CMT), miastenia congênita, Atrofia Muscular Espinhal, Neurologia geral.

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Publicado
2020-07-24
Como Citar
Sgobbi de Souza, P. V., Badia, B. de M. L., Gonçalves, E. A., Farias, I. B., Bocca Vieira de Rezende Pinto, W., & Souza Bulle Oliveira, A. (2020). Miopatia com corpos de Inclusão hereditária: revisão clínica e genética . Revista Neurociências, 28, 1-23. https://doi.org/10.34024/rnc.2020.v28.10569
Seção
Artigos de Revisão

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