Miopatia com corpos de Inclusão hereditária: revisão clínica e genética
DOI:
https://doi.org/10.34024/rnc.2020.v28.10569Palavras-chave:
Miopatia com corpos de inclusão, neurogenética, miopatia vacuolar, miositeResumo
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.
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Aceito: 2020-07-21
Publicado: 2020-07-24