{"id":637,"date":"2025-02-25T16:50:23","date_gmt":"2025-02-25T16:50:23","guid":{"rendered":"http:\/\/centogene.vl22350.dinaserver.com\/?page_id=637"},"modified":"2026-02-27T13:27:43","modified_gmt":"2026-02-27T13:27:43","slug":"distrofia-muscular-de-duchenne","status":"publish","type":"page","link":"https:\/\/www.centogene.com\/pt\/resources\/key-diseases\/duchenne-muscular-distrophy\/","title":{"rendered":"Distrofia Muscular de Duchenne"},"content":{"rendered":"<section class=\"bloque-banner-titulo-page  estilo-grey\" id=\"\">\r\n    \r\n    <div class=\"image-wrapper\">\r\n\r\n      <!-- include mp4 video on a loop -->\r\n              <img decoding=\"async\" class=\"\" src=\"https:\/\/www.centogene.com\/wp-content\/uploads\/2025\/02\/csm_cen_duchenne_keyvisual_header_crop_1bd15aeb5e.webp\" alt=\"csm_cen_duchenne_keyvisual_header_crop_1bd15aeb5e\" \/>\r\n          <\/div>\r\n    <div class=\"container content-wrapper\">\r\n      <div class=\"row justify-content-start align-items-center\">\r\n\r\n\r\n        <div class=\"col-12 col-lg-6 animation fadeTop align-self-center\">\r\n                  <h1>Distrofia Muscular de Duchenne<\/h1>\r\n          <h2 class=\"bl-texto\">A CENTOGENE apoia o desenvolvimento de novas terapias para a Distrofia Muscular de Duchenne, oferecendo informa\u00e7\u00f5es pr\u00e1ticas do mundo real ao longo de todo o fluxo de trabalho do desenvolvimento farmac\u00eautico.<\/h2>           \r\n          <a class=\"btn btn-primary mb-2\" href=\"mailto:contact.pharma@centogene.com\">Contate um especialista<\/a>\r\n                            <\/div>\r\n\r\n      <\/div>\r\n    <\/div>\r\n\r\n<\/section>\r\n<div class=\"breadcrumbs\">\r\n    <div class=\"container\">\r\n      <div class=\"row\">\r\n        <div class=\"col-12\">\r\n          <ul id=\"breadcrumbs\" class=\"breadcrumbs\"><li><a href=\"https:\/\/www.centogene.com\/pt\/\">Home<\/a><\/li><\/ul>        <\/div>\r\n      <\/div>\r\n    <\/div>\r\n<\/div>\r\n\r\n\r\n\n\n\r\n    \r\n\r\n<section class=\"bloque-contenedor    transparente-my\"   id=\"\">\r\n    <div class=\"container\">\r\n        <div class=\"\"> \r\n                                \r\n\r\n                <div class=\"acf-innerblocks-container\">\n\n<div class=\"wp-block-columns is-layout-flex wp-container-core-columns-is-layout-8f761849 wp-block-columns-is-layout-flex\">\n<div class=\"wp-block-column is-layout-flow wp-block-column-is-layout-flow\" style=\"flex-basis:66.66%\">\n<h2 class=\"wp-block-heading\">O que \u00e9 a distrofia muscular de Duchenne?<\/h2>\n\n\n\n<p class=\"wp-block-paragraph\">A distrofia muscular de Duchenne (DMD) \u00e9 uma doen\u00e7a grave, progressiva e degenerativa que causa atrofia muscular, ocorrendo em um a cada 5.000 a 6.000 nascimentos de meninos. Em meninas, a DMD \u00e9 leve e muitas vezes passa despercebida clinicamente. Os primeiros sintomas da DMD surgem por volta dos 2 a 3 anos de idade, com dificuldades para subir escadas, marcha cambaleante e quedas frequentes. A maioria dos pacientes n\u00e3o consegue andar entre os 10 e 12 anos e precisar\u00e1 de ventila\u00e7\u00e3o mec\u00e2nica por volta dos 20 anos. O comprometimento cognitivo \u00e9 relativamente frequente (30%) e se deve \u00e0 express\u00e3o cerebral de isoformas espec\u00edficas da distrofina. Os pacientes t\u00eam uma expectativa de vida mediana de 40,9 anos e a cardiomiopatia \u00e9 a principal causa de morte (uma manifesta\u00e7\u00e3o tardia devido \u00e0 rede de intera\u00e7\u00e3o espec\u00edfica (protetora) da distrofina no cora\u00e7\u00e3o).&nbsp;<\/p>\n<\/div>\n\n\n\n<div class=\"wp-block-column is-layout-flow wp-block-column-is-layout-flow\" style=\"flex-basis:33.33%\">\r\n    \r\n\r\n<section class=\"bloque-contenedor    fondocaja\"   id=\"\">\r\n    <div class=\"container\">\r\n        <div class=\"\"> \r\n                                \r\n\r\n                <div class=\"acf-innerblocks-container\">\n\n<h5 class=\"wp-block-heading\">Suporte CENTOGENE para DMD<\/h5>\n\n\n\n<ul class=\"wp-block-list\">\n<li>O Biobanco de Dados da CENTOGENE det\u00e9m um dos maiores conjuntos de dados gen\u00e9ticos mundiais sobre DMD (Distrofia Muscular de Duchenne).<\/li>\n\n\n\n<li>Caracterizar pacientes com DMD utilizando dados retrospectivos de pacientes do nosso Biobanco de Dados.<\/li>\n\n\n\n<li>Identifique biomarcadores de DMD atrav\u00e9s da nossa metabol\u00f4mica.<\/li>\n\n\n\n<li>Atendimento a pacientes com DMD por meio de nossa rede com mais de 30.000 m\u00e9dicos.<\/li>\n\n\n\n<li>Estabelecer modelos celulares de doen\u00e7as e, por exemplo, testar compostos com nossas 13 linhagens de c\u00e9lulas de fibroblastos derivadas de pacientes com DMD.<\/li>\n<\/ul>\n\n<\/div>\r\n          \r\n                            \r\n        <\/div>\r\n    <\/div>\r\n<\/section>\r\n<\/div>\n<\/div>\n\n<\/div>\r\n          \r\n                            \r\n        <\/div>\r\n    <\/div>\r\n<\/section>\r\n\n\n\r\n    \r\n\r\n<section class=\"bloque-contenedor    fondocolor\"   id=\"\">\r\n    <div class=\"container\">\r\n        <div class=\"\"> \r\n                                \r\n\r\n                <div class=\"acf-innerblocks-container\">\n\n  <section class=\"bloque-personalizado bloque-testimonios\">\n    <div class=\"row justify-content-center\">\n      <div class=\"col-12 col-md-10\">\n        <h2 class=\"\"><\/h2>\n      <\/div>\n\n    <\/div>\n    <div class=\"ref-arrows\" >\n      <div  class=\"swiper mySwiperTES\">\n\n        <div class=\"swiper-wrapper\" >\n                      <div class=\"swiper-slide  justify-content-center\">          \n              <div class=\"item-testimonio col-12 col-md-6\">            \n                <h3 class=\"bl-texto\">\u201cNa CENTOGENE, consideramos nossa miss\u00e3o apoiar o desenvolvimento de tratamentos para todas as doen\u00e7as raras e neurodegenerativas pela ind\u00fastria farmac\u00eautica, gerando insights e servi\u00e7os acion\u00e1veis do mundo real, aproveitando o vasto reposit\u00f3rio de dados do mundo real da CENTOGENE, nossa experi\u00eancia em gen\u00f4mica, medicina e bioinform\u00e1tica, e nossas capacidades de diagn\u00f3stico multi\u00f4mico.\u201d<\/h3>  \n                <p class=\"bl-autor\">Diretor Comercial e Gerente Geral da Centogene Pharma<\/p>\n              <\/div>\n            <\/div>\n                <\/div>\n        <div class=\"swiper-pagination\"><\/div>\n          \n      <\/div>\n      <div class=\"swiper-button-prev pre-371\"><\/div>\n      <div class=\"swiper-button-next next-371\"><\/div>    \n    <\/div>\n  <\/section>\n  <script>\n  jQuery(document).ready(function(){\n    var swiper = new Swiper(\".mySwiperTES\", {\n\n      slidesPerView: 1,\n      spaceBetween: 30, \n      pagination: {\n        el: \".swiper-pagination\",\n        clickable: true\n      },\n      navigation: {\n        nextEl: \".next-371\",\n        prevEl: \".pre-371\",\n      },\n      autoplay: {\n        delay: 8000,\n        disableOnInteraction: true,\n      },\n      on: {\n      slideChange: function(){\n          \/\/\n      }\n    }\n    });\n  });\n<\/script>\n\n\n<\/div>\r\n          \r\n                            \r\n        <\/div>\r\n    <\/div>\r\n<\/section>\r\n\n\n\r\n    \r\n\r\n<section class=\"bloque-contenedor    transparente-my\"   id=\"\">\r\n    <div class=\"container\">\r\n        <div class=\"\"> \r\n                                \r\n\r\n                <div class=\"acf-innerblocks-container\">\n\n<div class=\"wp-block-media-text has-media-on-the-right is-stacked-on-mobile\"><div class=\"wp-block-media-text__content\">\n<h2 class=\"wp-block-heading\">Distrofia Muscular de Duchenne em Detalhes<\/h2>\n\n\n\n<p class=\"fiftyfifty wp-block-paragraph\">A distrofia muscular de Duchenne (DMD) resulta de muta\u00e7\u00f5es com perda de fun\u00e7\u00e3o no gene da distrofina. A distrofina conecta o citoesqueleto de actina, a rede de filamentos proteicos interligados dentro da c\u00e9lula, \u00e0 matriz extracelular, a complexa rede de prote\u00ednas e carboidratos fora da c\u00e9lula, formando um enorme complexo macromolecular. Essa fun\u00e7\u00e3o de &quot;ponte&quot; \u00e9 essencial para a integridade estrutural do m\u00fasculo durante a contra\u00e7\u00e3o. Na DMD, o dano muscular inicia uma resposta inflamat\u00f3ria com substitui\u00e7\u00e3o do m\u00fasculo por tecido fibr\u00f3tico. As extremidades N e C da distrofina s\u00e3o essenciais, enquanto a parte intermedi\u00e1ria \u00e9 formada por repeti\u00e7\u00f5es de blocos modulares com alguma redund\u00e2ncia funcional.<\/p>\n\n\n\n<p class=\"wp-block-paragraph\">Isso explica o fen\u00f3tipo mais leve das dele\u00e7\u00f5es na regi\u00e3o intermedi\u00e1ria (distrofia muscular de Becker, DMB) e a abordagem terap\u00eautica por meio do salto de \u00e9xon e da terapia g\u00eanica com micro e minidistrofina. As mulheres, frequentemente chamadas de portadoras manifestantes, t\u00eam maior probabilidade de apresentar altera\u00e7\u00f5es na fun\u00e7\u00e3o card\u00edaca e podem sentir fraqueza muscular leve, fadiga e dor ou c\u00e3ibras musculares.<\/p>\n\n\n\n<div class=\"wp-block-buttons is-layout-flex wp-block-buttons-is-layout-flex\">\n<div class=\"wp-block-button\"><a class=\"wp-block-button__link wp-element-button\" href=\"#diagnosis\">Como diagnosticar a DMD<\/a><\/div>\n<\/div>\n<\/div><figure class=\"wp-block-media-text__media\"><img loading=\"lazy\" decoding=\"async\" width=\"1500\" height=\"844\" src=\"https:\/\/www.centogene.com\/wp-content\/uploads\/2025\/02\/CentoGenome_Landing_Page_Banner_Physician_1-1500x844.webp\" alt=\"\" class=\"wp-image-654 size-full\" srcset=\"https:\/\/www.centogene.com\/wp-content\/uploads\/2025\/02\/CentoGenome_Landing_Page_Banner_Physician_1-1500x844.webp 1500w, https:\/\/www.centogene.com\/wp-content\/uploads\/2025\/02\/CentoGenome_Landing_Page_Banner_Physician_1-1024x576.webp 1024w, https:\/\/www.centogene.com\/wp-content\/uploads\/2025\/02\/CentoGenome_Landing_Page_Banner_Physician_1-768x432.webp 768w, https:\/\/www.centogene.com\/wp-content\/uploads\/2025\/02\/CentoGenome_Landing_Page_Banner_Physician_1-1536x864.webp 1536w, https:\/\/www.centogene.com\/wp-content\/uploads\/2025\/02\/CentoGenome_Landing_Page_Banner_Physician_1.webp 1920w\" sizes=\"auto, (max-width: 1500px) 100vw, 1500px\" \/><\/figure><\/div>\n\n<\/div>\r\n          \r\n                            \r\n        <\/div>\r\n    <\/div>\r\n<\/section>\r\n\n\n\r\n    \r\n\r\n<section class=\"bloque-contenedor    fondocolor\"   id=\"\">\r\n    <div class=\"container\">\r\n        <div class=\"\"> \r\n                                \r\n\r\n                <div class=\"acf-innerblocks-container\">\n\n<h3 class=\"wp-block-heading\">A distrofina \u00e9 um dos maiores genes do genoma humano (79 exons):<\/h3>\n\n\n\n<div class=\"wp-block-columns is-layout-flex wp-container-core-columns-is-layout-8f761849 wp-block-columns-is-layout-flex\">\n<div class=\"wp-block-column is-layout-flow wp-block-column-is-layout-flow\">\r\n    \r\n\r\n<section class=\"bloque-contenedor    fondocaja\"   id=\"\">\r\n    <div class=\"container\">\r\n        <div class=\"\"> \r\n                                \r\n\r\n                <div class=\"acf-innerblocks-container\">\n\n<h4 class=\"wp-block-heading\">Muta\u00e7\u00f5es causadoras de DMD:<\/h4>\n\n\n\n<ul class=\"wp-block-list\">\n<li>60-70% grandes dele\u00e7\u00f5es<\/li>\n\n\n\n<li>5-15% grandes duplica\u00e7\u00f5es<\/li>\n\n\n\n<li>20% - muta\u00e7\u00f5es pontuais, pequenas dele\u00e7\u00f5es e inser\u00e7\u00f5es<\/li>\n\n\n\n<li>Muta\u00e7\u00f5es com perda de fun\u00e7\u00e3o levam \u00e0 DMD (distrofia muscular de Duchenne).<\/li>\n\n\n\n<li>Muta\u00e7\u00f5es menos graves e que n\u00e3o alteram a estrutura de leitura levam \u00e0 DMO (fen\u00f3tipo mais leve).<\/li>\n\n\n\n<li>Probabilidade de muta\u00e7\u00f5es de novo em 30% (tendem a se agrupar em pontos cr\u00edticos)<\/li>\n<\/ul>\n\n<\/div>\r\n          \r\n                            \r\n        <\/div>\r\n    <\/div>\r\n<\/section>\r\n<\/div>\n\n\n\n<div class=\"wp-block-column is-layout-flow wp-block-column-is-layout-flow\">\r\n    \r\n\r\n<section class=\"bloque-contenedor    fondocaja\"   id=\"\">\r\n    <div class=\"container\">\r\n        <div class=\"\"> \r\n                                \r\n\r\n                <div class=\"acf-innerblocks-container\">\n\n<h4 class=\"wp-block-heading\">A DMD \u00e9 caracterizada por alta variabilidade fenot\u00edpica, com 6 modificadores gen\u00e9ticos identificados que influenciam a progress\u00e3o da doen\u00e7a, todos localizados no cromossomo X:<\/h4>\n\n\n\n<ul class=\"wp-block-list\">\n<li>SPP1 \u2013 fosfoprote\u00edna secretada 1 ou osteopontina (matriz extracelular)<\/li>\n\n\n\n<li>LTBP4 \u2013 prote\u00ednas de liga\u00e7\u00e3o ao TGF-beta latente (matriz extracelular)<\/li>\n\n\n\n<li>CD40 \u2013 cluster de diferencia\u00e7\u00e3o 40 (resposta inflamat\u00f3ria)<\/li>\n\n\n\n<li>THBS1 \u2013 trombospondina 1 (matriz extracelular)<\/li>\n\n\n\n<li>ACTN3 \u2013 Prote\u00edna de liga\u00e7\u00e3o cruzada da actina F (prote\u00edna de liga\u00e7\u00e3o \u00e0 actina)<\/li>\n\n\n\n<li>TCTEX1D \u2013 cadeia leve da dine\u00edna Tctex (prote\u00edna motora do citoesqueleto)<\/li>\n<\/ul>\n\n<\/div>\r\n          \r\n                            \r\n        <\/div>\r\n    <\/div>\r\n<\/section>\r\n<\/div>\n<\/div>\n\n<\/div>\r\n          \r\n                            \r\n        <\/div>\r\n    <\/div>\r\n<\/section>\r\n\n\n\r\n    \r\n\r\n<section class=\"bloque-contenedor    transparente-my\"   id=\"\">\r\n    <div class=\"container\">\r\n        <div class=\"\"> \r\n                                \r\n\r\n                <div class=\"acf-innerblocks-container\">\n\n<div class=\"wp-block-columns is-layout-flex wp-container-core-columns-is-layout-8f761849 wp-block-columns-is-layout-flex\">\n<div class=\"wp-block-column is-layout-flow wp-block-column-is-layout-flow\">\n<h2 class=\"wp-block-heading\" id=\"diagnosis\">Diagn\u00f3stico e Rastreio da DMD<\/h2>\n\n\n\n<ul class=\"wp-block-list\">\n<li>O diagn\u00f3stico baseia-se no atraso do desenvolvimento motor (idade m\u00e9dia ao diagn\u00f3stico de 4,4 anos) \u2013 o tratamento pr\u00e9-sintom\u00e1tico pode proporcionar melhores resultados.<\/li>\n\n\n\n<li>Biomarcador diagn\u00f3stico: Creatina quinase plasm\u00e1tica (CK) \u2013 bastante inespec\u00edfica e propensa a resultados falso-positivos em rec\u00e9m-nascidos. Um novo kit para detec\u00e7\u00e3o de CK espec\u00edfica para m\u00fasculo em amostras de sangue seco de rec\u00e9m-nascidos recebeu recentemente aprova\u00e7\u00e3o da FDA.<\/li>\n\n\n\n<li>Os testes gen\u00e9ticos s\u00e3o necess\u00e1rios para confirmar o diagn\u00f3stico, permitir a an\u00e1lise de portadoras da m\u00e3e e determinar se o paciente \u00e9 candidato a terapias espec\u00edficas para a muta\u00e7\u00e3o.<\/li>\n\n\n\n<li>Por se tratar de uma doen\u00e7a gen\u00e9tica ligada ao cromossomo X, o sequenciamento de DNA \u00e9 essencial para identificar portadores e caracterizar pacientes. Existem alguns medicamentos de exclus\u00e3o de \u00e9xons dispon\u00edveis, adequados para um subgrupo de pacientes com determinadas muta\u00e7\u00f5es.<\/li>\n<\/ul>\n\n\n\n<p class=\"wp-block-paragraph\">Existem diversos tratamentos aprovados e em desenvolvimento para o al\u00edvio dos sintomas ou para a supera\u00e7\u00e3o do defeito gen\u00e9tico. Uma vis\u00e3o geral:&nbsp;<a href=\"https:\/\/www.frontiersin.org\/articles\/10.3389\/fphar.2022.950651\/full\" target=\"_blank\" rel=\"noreferrer noopener\">https:\/\/www.frontiersin.org\/articles\/10.3389\/fphar.2022.950651\/full<\/a><\/p>\n\n\n\n<p class=\"wp-block-paragraph\">Atualmente, existem cerca de 70 ensaios cl\u00ednicos em andamento para pacientes com DMD. Portanto, h\u00e1 oportunidades para os pacientes participarem de pesquisas. Como se trata de uma doen\u00e7a de progress\u00e3o r\u00e1pida, os pacientes precisam ser inclu\u00eddos desde cedo em suas vidas.<\/p>\n<\/div>\n\n\n\n<div class=\"wp-block-column is-layout-flow wp-block-column-is-layout-flow\">\n<h4 class=\"wp-block-heading\">Necessidades n\u00e3o atendidas da DMD<\/h4>\n\n\n\n<ul class=\"wp-block-list\">\n<li>Do ponto de vista m\u00e9dico: o melhor resultado obtido com as terapias atualmente aprovadas (4 medicamentos que promovem o salto de \u00e9xons) \u00e9 um fen\u00f3tipo mais leve.<\/li>\n\n\n\n<li>Diagn\u00f3stico: aprimoramento do marcador diagn\u00f3stico<\/li>\n<\/ul>\n\n\n\n<hr class=\"wp-block-separator has-alpha-channel-opacity\"\/>\n\n\n\n<h4 class=\"wp-block-heading\">Desafios terap\u00eauticos da DMD<\/h4>\n\n\n\n<ul class=\"wp-block-list\">\n<li>Administra\u00e7\u00e3o ao tecido alvo<\/li>\n\n\n\n<li>Janela terap\u00eautica curta (in\u00edcio precoce, progress\u00e3o r\u00e1pida)<\/li>\n\n\n\n<li>A distrofina \u00e9 o maior gene humano. O comprimento do oligonucleot\u00eddeo transportado por vetores virais e part\u00edculas lip\u00eddicas \u00e9 limitado.<\/li>\n\n\n\n<li>Todos os m\u00fasculos s\u00e3o afetados pela DMD (30-40% massa corporal)<\/li>\n\n\n\n<li>As fibras musculares n\u00e3o s\u00e3o facilmente acess\u00edveis.<\/li>\n\n\n\n<li>Falta de biomarcadores validados para monitorar os efeitos terap\u00eauticos (essenciais para o sucesso dos estudos cl\u00ednicos)<\/li>\n\n\n\n<li>A terapia para DMD \u00e9 um campo concorrido (40 empresas e 24 estudos intervencionistas em fase de recrutamento).<sup>*<\/sup>)<\/li>\n<\/ul>\n\n\n\n<p class=\"has-small-font-size wp-block-paragraph\"><sup>*<\/sup>Timonen et al., Int. J.Neon. Triagem, 2019<\/p>\n<\/div>\n<\/div>\n\n<\/div>\r\n          \r\n                            \r\n        <\/div>\r\n    <\/div>\r\n<\/section>\r\n\n\n\r\n    \r\n\r\n<section class=\"bloque-contenedor    fondocolor\"   id=\"\">\r\n    <div class=\"container\">\r\n        <div class=\"\"> \r\n                                \r\n\r\n                <div class=\"acf-innerblocks-container\">\n\n<h2 class=\"wp-block-heading\">CENTOGENE e Distrofia Muscular de Duchenne<\/h2>\n\n\n\n<h3 class=\"wp-block-heading\">Ofertas de ponta a ponta ao longo do fluxo de trabalho farmac\u00eautico<\/h3>\n\n\n    <section class=\"bloque-personalizado bloque-cajas-imgs estilo-cajasiconos\" >\n        <div class=\"\"> \n                        <div class=\"row justify-content-between\">\n\n                                        \n                <div class=\"swiper-slide col-12 col-md-4 delay-1 caja\">\n                    <div class=\"caja-inner\" >\n                                                <div class=\"bl-imagen animationNo scalexTop delay-1\"><img decoding=\"async\" src=\"https:\/\/www.centogene.com\/wp-content\/uploads\/2025\/02\/cen-ico-network.svg\" class=\"\" alt=\"\" \/> <\/div>                                               \n                                                \n                        <div class=\"caja-text\">\n                                                        <h3 class=\"bl-titulo\">Pontos fortes comprovados da CENTOGENE no tratamento da DMD<\/h3>\n                            <ul class=\"t3m-List t3m-List--unordered\">\n<li>Um dos maiores conjuntos de dados gen\u00e9ticos em DMD, com mais de 3.000 pacientes diagnosticados com DMD em todo o mundo, incluindo mais de 1.000 pacientes com dele\u00e7\u00e3o do \u00e9xon DMD e cerca de 650 com uma muta\u00e7\u00e3o de variante de nucleot\u00eddeo \u00fanico.<\/li>\n<li>Uma parcela relevante dos pacientes com DMD representa etnias bastante espec\u00edficas que geralmente n\u00e3o s\u00e3o contempladas nos programas cl\u00ednicos atuais.<\/li>\n<li>Caracteriza\u00e7\u00e3o multi\u00f4mica do paciente<\/li>\n<li>Identifica\u00e7\u00e3o de biomarcadores em pacientes por meio da metabol\u00f4mica<\/li>\n<li>Rede global de m\u00e9dicos estabelecida<\/li>\n<li>13 linhagens de c\u00e9lulas de fibroblastos derivadas de pacientes<\/li>\n<\/ul>\n      \n                                                                          \n                        <\/div>                        \n                        \n                    <\/div>      \n                <\/div>       \n                \n                            \n                <div class=\"swiper-slide col-12 col-md-4 delay-1 delay-2 caja\">\n                    <div class=\"caja-inner\" >\n                                                <div class=\"bl-imagen animationNo scalexTop delay-2\"><img decoding=\"async\" src=\"https:\/\/www.centogene.com\/wp-content\/uploads\/2025\/02\/cen-ico-patients.svg\" class=\"\" alt=\"\" \/> <\/div>                                               \n                                                \n                        <div class=\"caja-text\">\n                                                        <h3 class=\"bl-titulo\">Descoberta e Pesquisa Cl\u00ednica Inicial<\/h3>\n                            <ul class=\"t3m-List t3m-List--unordered\">\n<li>Identifica\u00e7\u00e3o de novos alvos com base em linhagens celulares derivadas de pacientes.<\/li>\n<li>Melhor compreens\u00e3o e caracteriza\u00e7\u00e3o de doen\u00e7as em rela\u00e7\u00e3o a variantes e muta\u00e7\u00f5es com base em testes multi\u00f4micos.<\/li>\n<li>Combinando nossas capacidades metabol\u00f4micas, podemos n\u00e3o apenas caracterizar os pacientes em profundidade, mas tamb\u00e9m desenvolver marcadores para a progress\u00e3o da doen\u00e7a e o efeito do tratamento.<\/li>\n<li>Obtenha acesso a amostras frescas de pacientes por meio da participa\u00e7\u00e3o da rede interna de m\u00e9dicos.<\/li>\n<\/ul>\n      \n                                                                          \n                        <\/div>                        \n                        \n                    <\/div>      \n                <\/div>       \n                \n                            \n                <div class=\"swiper-slide col-12 col-md-4 delay-1 delay-2 delay-3 caja\">\n                    <div class=\"caja-inner\" >\n                                                <div class=\"bl-imagen animationNo scalexTop delay-3\"><img decoding=\"async\" src=\"https:\/\/www.centogene.com\/wp-content\/uploads\/2025\/02\/cen-ico-drug.svg\" class=\"\" alt=\"\" \/> <\/div>                                               \n                                                \n                        <div class=\"caja-text\">\n                                                        <h3 class=\"bl-titulo\">Desenvolvimento de medicamentos<\/h3>\n                            <ul class=\"t3m-List t3m-List--unordered\">\n<li>Estudos cl\u00ednicos: acesso a pacientes por meio do envolvimento de m\u00e9dicos em todas as \u00e1reas geogr\u00e1ficas. Isso permitiria um recrutamento mais r\u00e1pido e reduziria o tempo de lan\u00e7amento no mercado.<\/li>\n<li>Estudos cl\u00ednicos: monitoramento da efic\u00e1cia do tratamento e da progress\u00e3o da doen\u00e7a por meio de biomarcadores.<\/li>\n<\/ul>\n      \n                                                                          \n                        <\/div>                        \n                        \n                    <\/div>      \n                <\/div>       \n                \n                                     \n             \n            \n        <\/div>\n    <\/div>  \n<\/section>\n\n\n\n\n<\/div>\r\n          \r\n                            \r\n        <\/div>\r\n    <\/div>\r\n<\/section>\r\n\n\n\r\n    \r\n\r\n<section class=\"bloque-contenedor    transparente-my\"   id=\"\">\r\n    <div class=\"container\">\r\n        <div class=\"\"> \r\n                                \r\n\r\n                <div class=\"acf-innerblocks-container\">\n\n<div class=\"wp-block-media-text has-media-on-the-right is-stacked-on-mobile\"><div class=\"wp-block-media-text__content\">\n<h2 class=\"wp-block-heading\">Associa\u00e7\u00f5es de Pacientes com DMD<\/h2>\n\n\n\n<p class=\"wp-block-paragraph\">Se voc\u00ea \u00e9 um paciente com DMD em busca de um melhor entendimento da doen\u00e7a ou de seus poss\u00edveis pr\u00f3ximos passos, recomendamos que entre em contato com as seguintes organiza\u00e7\u00f5es de pacientes:<\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><a href=\"https:\/\/www.parentprojectmd.org\/\" target=\"_blank\" rel=\"noreferrer noopener\">Projeto Pais Distrofia Muscular (PPMD)<\/a>&nbsp;\u2013 Grupo de defesa dos pacientes com distrofia muscular de Duchenne, focado em pesquisa e tratamentos.<\/li>\n\n\n\n<li><a href=\"https:\/\/cureduchenne.org\/\" target=\"_blank\" rel=\"noreferrer noopener\">Cura Duchenne<\/a>&nbsp;\u2013 Grupo de defesa dos pacientes com um modelo inovador de filantropia de risco que financia pesquisas, diagn\u00f3stico precoce e acesso ao tratamento.<\/li>\n\n\n\n<li><a href=\"https:\/\/www.worldduchenne.org\/\" target=\"_blank\" rel=\"noreferrer noopener\">Organiza\u00e7\u00e3o Mundial de Duchenne<\/a>&nbsp;\u2013 organiza\u00e7\u00f5es globais ou nacionais de pacientes<\/li>\n<\/ul>\n\n\n\n<p class=\"wp-block-paragraph\">A CENTOGENE tamb\u00e9m est\u00e1 em contato pr\u00f3ximo com&nbsp;<a href=\"http:\/\/www.treat-nmd.org\/\" target=\"_blank\" rel=\"noreferrer noopener\">TRATAR NMD<\/a>, uma rede global de especialistas na \u00e1rea neuromuscular. Sua miss\u00e3o \u00e9 acelerar o desenvolvimento de tratamentos eficazes e estabelecer o que h\u00e1 de melhor em diagn\u00f3stico e atendimento para pessoas em todo o mundo.<\/p>\n<\/div><figure class=\"wp-block-media-text__media\"><img loading=\"lazy\" decoding=\"async\" width=\"600\" height=\"322\" src=\"https:\/\/www.centogene.com\/wp-content\/uploads\/2025\/02\/csm_cen-patient-association-1920x1281_8c0cd364c4.webp\" alt=\"\" class=\"wp-image-706 size-full\"\/><\/figure><\/div>\n\n<\/div>\r\n          \r\n                            \r\n        <\/div>\r\n    <\/div>\r\n<\/section>\r\n\n\n\r\n    \r\n\r\n<section class=\"bloque-contenedor    fondocolor\"   id=\"\">\r\n    <div class=\"container\">\r\n        <div class=\"\"> \r\n                                \r\n\r\n                <div class=\"acf-innerblocks-container\">\n    <section class=\"bloque-personalizado bloque-cajas-imgs estilo-cajasblancas\" >\n        <div class=\"\"> \n                        <div class=\"row justify-content-between\">\n\n                                        \n                <div class=\"swiper-slide col-12 col-md-4 delay-1 caja\">\n                    <div class=\"caja-inner\" >\n                        <a href=\"https:\/\/www.centogene.com\/pt\/farmaceutica\/o-que-fazemos-pela-industria-farmaceutica\/#partners\" target=\"_self\" class=\"\">                        <div class=\"bl-imagen animationNo scalexTop delay-1\"><img decoding=\"async\" src=\"https:\/\/www.centogene.com\/wp-content\/uploads\/2025\/02\/csm_211118-centogene-images-styleguide-header-04_1a68185bb9-650x400.webp\" class=\"\" alt=\"\" \/> <\/div>                                               \n                        <\/a>                        \n                        <div class=\"caja-text\">\n                            <p class=\"prefijo\">Farmac\u00eautica<\/p>                            <h3 class=\"bl-titulo\">Parceiros<\/h3>\n                            <p>A CENTOGENE est\u00e1 trabalhando em conjunto com parceiros para identificar rapidamente compostos l\u00edderes e alvos terap\u00eauticos, reduzindo os riscos no desenvolvimento de medicamentos \u00f3rf\u00e3os.<\/p>\n      \n                                                          <a target=\"_self\" href=\"https:\/\/www.centogene.com\/pt\/farmaceutica\/o-que-fazemos-pela-industria-farmaceutica\/#partners\" class=\"btn btn-primary\">Saiba mais sobre nossos parceiros.<\/a>\n                                                                          \n                        <\/div>                        \n                        \n                    <\/div>      \n                <\/div>       \n                \n                            \n                <div class=\"swiper-slide col-12 col-md-4 delay-1 delay-2 caja\">\n                    <div class=\"caja-inner\" >\n                        <a href=\"https:\/\/www.centogene.com\/pt\/diagnosticos\/genes-unicos\/\" target=\"_self\" class=\"\">                        <div class=\"bl-imagen animationNo scalexTop delay-2\"><img decoding=\"async\" src=\"https:\/\/www.centogene.com\/wp-content\/uploads\/2025\/02\/csm_centogene-diagnostics-our-tests_single-genes-header_54dc003d4f-650x400.webp\" class=\"\" alt=\"\" \/> <\/div>                                               \n                        <\/a>                        \n                        <div class=\"caja-text\">\n                            <p class=\"prefijo\">Diagn\u00f3stico<\/p>                            <h3 class=\"bl-titulo\">An\u00e1lise de Gene \u00danico (MLPA)<\/h3>\n                            <p>Sabe-se que muitas doen\u00e7as gen\u00e9ticas s\u00e3o causadas por altera\u00e7\u00f5es ou variantes em um \u00fanico gene. Na CENTOGENE, oferecemos a mais completa gama de testes diagn\u00f3sticos para um amplo espectro de doen\u00e7as monog\u00eanicas.<\/p>\n      \n                                                          <a target=\"_self\" href=\"https:\/\/www.centogene.com\/pt\/diagnosticos\/genes-unicos\/\" class=\"btn btn-primary\">Saiba mais sobre testes de gene \u00fanico<\/a>\n                                                                          \n                        <\/div>                        \n                        \n                    <\/div>      \n                <\/div>       \n                \n                            \n                <div class=\"swiper-slide col-12 col-md-4 delay-1 delay-2 delay-3 caja\">\n                    <div class=\"caja-inner\" >\n                        <a href=\"https:\/\/www.centogene.com\/wp-content\/uploads\/2025\/02\/centogene_downloads_cheatsheet_V2eng_Print_Web_20200706.pdf\" target=\"_self\" class=\"\">                        <div class=\"bl-imagen animationNo scalexTop delay-3\"><img decoding=\"async\" src=\"https:\/\/www.centogene.com\/wp-content\/uploads\/2025\/02\/csm_centogene-pharma_patient-identification-header_c21f201d61-650x400.webp\" class=\"\" alt=\"\" \/> <\/div>                                               \n                        <\/a>                        \n                        <div class=\"caja-text\">\n                            <p class=\"prefijo\">Pacientes<\/p>                            <h3 class=\"bl-titulo\">Aconselhamento Gen\u00e9tico<\/h3>\n                            <p>A CENTOGENE s\u00f3 realiza testes gen\u00e9ticos solicitados por um m\u00e9dico. Os resultados dos testes gen\u00e9ticos podem ter um impacto profundo na sua vida. Recomendamos fortemente que voc\u00ea procure aconselhamento gen\u00e9tico. Os profissionais de aconselhamento podem orientar voc\u00ea e sua fam\u00edlia sobre a conveni\u00eancia de realizar um teste gen\u00e9tico. Eles tamb\u00e9m podem ajud\u00e1-lo a compreender os resultados do seu teste gen\u00e9tico e suas implica\u00e7\u00f5es.<\/p>\n<p>O formul\u00e1rio de perguntas e respostas a seguir pode auxiliar nas discuss\u00f5es com seu m\u00e9dico sobre testes gen\u00e9ticos:<\/p>\n      \n                                                          <a target=\"_self\" href=\"https:\/\/www.centogene.com\/wp-content\/uploads\/2025\/02\/centogene_downloads_cheatsheet_V2eng_Print_Web_20200706.pdf\" class=\"btn btn-primary\">O que perguntar ao seu m\u00e9dico<\/a>\n                                                                          \n                        <\/div>                        \n                        \n                    <\/div>      \n                <\/div>       \n                \n                                     \n             \n            \n        <\/div>\n    <\/div>  \n<\/section>\n\n\n\n\n<\/div>\r\n          \r\n                            \r\n        <\/div>\r\n    <\/div>\r\n<\/section>\r\n\n\n\r\n    \r\n\r\n<section class=\"bloque-contenedor    transparente\"   id=\"\">\r\n    <div class=\"container\">\r\n        <div class=\"\"> \r\n                                \r\n\r\n                <div class=\"acf-innerblocks-container\">\n  <section class=\"bloque-personalizado bloque-contact-info\" >     \n    <h2 class=\"mt-3 mb-5\"><div style=\"margin: 3rem 0 \">Estamos aqui para orient\u00e1-lo<p style=\"font-size: 1.2rem; margin-top: 1rem; margin-bottom: 1.5rem;\">Nossa rede global de suporte ao cliente e especialistas o guiar\u00e1 em cada etapa do processo.<\/p><a class=\"btn btn-primary\" style=\"margin: .5rem\" href=\"mailto:customer.support@centogene.com\">Envie-nos uma mensagem<\/a><a class=\"btn btn-2\" style=\"margin: .5rem\" href=\"https:\/\/www.centogene.com\/pt\/sobre-nos\/contate-nos\/\">Apoio Regional<\/a><\/div><\/h2>   \n    <div class=\"row justify-content-center bordesverticales\"> \n        <div class=\"bl-texto col-12 col-md-3\">\n                 <\/div>\n        <div class=\"bl-texto  col-12 col-md-2\">\n          \n        <\/div>\n        <div class=\"bl-texto  col-12 col-md-3\">\n                  <\/div>\n    <\/div>\n  <\/section>  \n\n  \n\n<\/div>\r\n          \r\n                            \r\n        <\/div>\r\n    <\/div>\r\n<\/section>","protected":false},"excerpt":{"rendered":"","protected":false},"author":2,"featured_media":0,"parent":2035,"menu_order":20,"comment_status":"closed","ping_status":"closed","template":"","meta":{"_acf_changed":false,"inline_featured_image":false,"footnotes":""},"class_list":["post-637","page","type-page","status-publish","hentry"],"acf":[],"yoast_head":"<!-- This site is optimized with the Yoast SEO plugin v28.1 - https:\/\/yoast.com\/product\/yoast-seo-wordpress\/ -->\n<title>Duchenne Muscular Distrophy | CENTOGENE<\/title>\n<meta name=\"robots\" content=\"index, follow, max-snippet:-1, max-image-preview:large, max-video-preview:-1\" \/>\n<link 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