{"id":33906,"date":"2026-03-05T14:34:11","date_gmt":"2026-03-05T17:34:11","guid":{"rendered":"https:\/\/www.grupomedcof.com.br\/blog\/?p=33906"},"modified":"2026-03-05T14:34:14","modified_gmt":"2026-03-05T17:34:14","slug":"dia-mundial-das-doencas-raras","status":"publish","type":"post","link":"https:\/\/www.grupomedcof.com.br\/blog\/dia-mundial-das-doencas-raras\/","title":{"rendered":"Dia Mundial das Doen\u00e7as Raras: o que s\u00e3o, exemplos e desafios no Brasil"},"content":{"rendered":"<div id=\"ez-toc-container\" class=\"ez-toc-v2_0_74 counter-hierarchy ez-toc-counter ez-toc-transparent ez-toc-container-direction\">\n<div class=\"ez-toc-title-container\">\n<p class=\"ez-toc-title\" style=\"cursor:inherit\">Sum\u00e1rio<\/p>\n<span class=\"ez-toc-title-toggle\"><a href=\"#\" class=\"ez-toc-pull-right ez-toc-btn ez-toc-btn-xs ez-toc-btn-default ez-toc-toggle\" aria-label=\"Alternar tabela de conte\u00fado\"><span class=\"ez-toc-js-icon-con\"><span class=\"\"><span class=\"eztoc-hide\" style=\"display:none;\">Toggle<\/span><span class=\"ez-toc-icon-toggle-span\"><svg style=\"fill: #999;color:#999\" xmlns=\"http:\/\/www.w3.org\/2000\/svg\" class=\"list-377408\" width=\"20px\" height=\"20px\" viewBox=\"0 0 24 24\" fill=\"none\"><path d=\"M6 6H4v2h2V6zm14 0H8v2h12V6zM4 11h2v2H4v-2zm16 0H8v2h12v-2zM4 16h2v2H4v-2zm16 0H8v2h12v-2z\" fill=\"currentColor\"><\/path><\/svg><svg style=\"fill: #999;color:#999\" class=\"arrow-unsorted-368013\" xmlns=\"http:\/\/www.w3.org\/2000\/svg\" width=\"10px\" height=\"10px\" viewBox=\"0 0 24 24\" version=\"1.2\" baseProfile=\"tiny\"><path d=\"M18.2 9.3l-6.2-6.3-6.2 6.3c-.2.2-.3.4-.3.7s.1.5.3.7c.2.2.4.3.7.3h11c.3 0 .5-.1.7-.3.2-.2.3-.5.3-.7s-.1-.5-.3-.7zM5.8 14.7l6.2 6.3 6.2-6.3c.2-.2.3-.5.3-.7s-.1-.5-.3-.7c-.2-.2-.4-.3-.7-.3h-11c-.3 0-.5.1-.7.3-.2.2-.3.5-.3.7s.1.5.3.7z\"\/><\/svg><\/span><\/span><\/span><\/a><\/span><\/div>\n<nav><ul class='ez-toc-list ez-toc-list-level-1 ' ><li class='ez-toc-page-1 ez-toc-heading-level-2'><a class=\"ez-toc-link ez-toc-heading-1\" href=\"https:\/\/www.grupomedcof.com.br\/blog\/dia-mundial-das-doencas-raras\/#Dia_Nacional_das_Doencas_Raras_%E2%80%93_Por_que_existe\" >Dia Nacional das Doen\u00e7as Raras &#8211; Por que existe?<\/a><\/li><li class='ez-toc-page-1 ez-toc-heading-level-2'><a class=\"ez-toc-link ez-toc-heading-2\" href=\"https:\/\/www.grupomedcof.com.br\/blog\/dia-mundial-das-doencas-raras\/#Quais_sao_as_doencas_raras_do_Brasil\" >Quais s\u00e3o as doen\u00e7as raras do Brasil?<\/a><ul class='ez-toc-list-level-3' ><li class='ez-toc-heading-level-3'><a class=\"ez-toc-link ez-toc-heading-3\" href=\"https:\/\/www.grupomedcof.com.br\/blog\/dia-mundial-das-doencas-raras\/#Fibrose_cistica\" >Fibrose c\u00edstica<\/a><\/li><li class='ez-toc-page-1 ez-toc-heading-level-3'><a class=\"ez-toc-link ez-toc-heading-4\" href=\"https:\/\/www.grupomedcof.com.br\/blog\/dia-mundial-das-doencas-raras\/#Distrofia_muscular_de_Duchenne\" >Distrofia muscular de Duchenne<\/a><\/li><li class='ez-toc-page-1 ez-toc-heading-level-3'><a class=\"ez-toc-link ez-toc-heading-5\" href=\"https:\/\/www.grupomedcof.com.br\/blog\/dia-mundial-das-doencas-raras\/#Esclerose_lateral_amiotrofica_ELA\" >Esclerose lateral amiotr\u00f3fica (ELA)<\/a><\/li><li class='ez-toc-page-1 ez-toc-heading-level-3'><a class=\"ez-toc-link ez-toc-heading-6\" href=\"https:\/\/www.grupomedcof.com.br\/blog\/dia-mundial-das-doencas-raras\/#Doenca_Falciforme\" >Doenca Falciforme&nbsp;<\/a><\/li><li class='ez-toc-page-1 ez-toc-heading-level-3'><a class=\"ez-toc-link ez-toc-heading-7\" href=\"https:\/\/www.grupomedcof.com.br\/blog\/dia-mundial-das-doencas-raras\/#Doenca_de_Gaucher\" >Doen\u00e7a de Gaucher<\/a><\/li><li class='ez-toc-page-1 ez-toc-heading-level-3'><a class=\"ez-toc-link ez-toc-heading-8\" href=\"https:\/\/www.grupomedcof.com.br\/blog\/dia-mundial-das-doencas-raras\/#Fenilcetonuria\" >Fenilceton\u00faria<\/a><\/li><li class='ez-toc-page-1 ez-toc-heading-level-3'><a class=\"ez-toc-link ez-toc-heading-9\" href=\"https:\/\/www.grupomedcof.com.br\/blog\/dia-mundial-das-doencas-raras\/#Epidermolise_bolhosa\" >Epiderm\u00f3lise bolhosa<\/a><\/li><li class='ez-toc-page-1 ez-toc-heading-level-3'><a class=\"ez-toc-link ez-toc-heading-10\" href=\"https:\/\/www.grupomedcof.com.br\/blog\/dia-mundial-das-doencas-raras\/#Esclerose_Multipla\" >Esclerose M\u00faltipla&nbsp;<\/a><\/li><\/ul><\/li><li class='ez-toc-page-1 ez-toc-heading-level-2'><a class=\"ez-toc-link ez-toc-heading-11\" href=\"https:\/\/www.grupomedcof.com.br\/blog\/dia-mundial-das-doencas-raras\/#Por_que_o_diagnostico_das_doencas_raras_e_dificil\" >Por que o diagn\u00f3stico das doen\u00e7as raras \u00e9 dif\u00edcil?<\/a><\/li><li class='ez-toc-page-1 ez-toc-heading-level-2'><a class=\"ez-toc-link ez-toc-heading-12\" href=\"https:\/\/www.grupomedcof.com.br\/blog\/dia-mundial-das-doencas-raras\/#Legislacao\" >Legisla\u00e7\u00e3o<\/a><\/li><li class='ez-toc-page-1 ez-toc-heading-level-2'><a class=\"ez-toc-link ez-toc-heading-13\" href=\"https:\/\/www.grupomedcof.com.br\/blog\/dia-mundial-das-doencas-raras\/#Como_conquistar_a_aprovacao_na_residencia\" >Como conquistar a aprova\u00e7\u00e3o na resid\u00eancia?<\/a><\/li><\/ul><\/nav><\/div>\n\n<figure class=\"wp-block-image size-large\"><img loading=\"lazy\" decoding=\"async\" width=\"1024\" height=\"576\" src=\"https:\/\/www.grupomedcof.com.br\/blog\/wp-content\/uploads\/2025\/02\/Blog-MedCof-2025-02-24T172258.063-1024x576.jpg\" alt=\"\" class=\"wp-image-33910\" srcset=\"https:\/\/www.grupomedcof.com.br\/blog\/wp-content\/uploads\/2025\/02\/Blog-MedCof-2025-02-24T172258.063-1024x576.jpg 1024w, https:\/\/www.grupomedcof.com.br\/blog\/wp-content\/uploads\/2025\/02\/Blog-MedCof-2025-02-24T172258.063-300x169.jpg 300w, https:\/\/www.grupomedcof.com.br\/blog\/wp-content\/uploads\/2025\/02\/Blog-MedCof-2025-02-24T172258.063-768x432.jpg 768w, https:\/\/www.grupomedcof.com.br\/blog\/wp-content\/uploads\/2025\/02\/Blog-MedCof-2025-02-24T172258.063-1536x864.jpg 1536w, https:\/\/www.grupomedcof.com.br\/blog\/wp-content\/uploads\/2025\/02\/Blog-MedCof-2025-02-24T172258.063-747x420.jpg 747w, https:\/\/www.grupomedcof.com.br\/blog\/wp-content\/uploads\/2025\/02\/Blog-MedCof-2025-02-24T172258.063-150x84.jpg 150w, https:\/\/www.grupomedcof.com.br\/blog\/wp-content\/uploads\/2025\/02\/Blog-MedCof-2025-02-24T172258.063-696x392.jpg 696w, https:\/\/www.grupomedcof.com.br\/blog\/wp-content\/uploads\/2025\/02\/Blog-MedCof-2025-02-24T172258.063-1068x601.jpg 1068w, https:\/\/www.grupomedcof.com.br\/blog\/wp-content\/uploads\/2025\/02\/Blog-MedCof-2025-02-24T172258.063.jpg 1920w\" sizes=\"auto, (max-width: 1024px) 100vw, 1024px\" \/><\/figure>\n\n\n\n<p>As <strong>doen\u00e7as raras<\/strong> s\u00e3o condi\u00e7\u00f5es que afetam um n\u00famero reduzido de pessoas quando comparadas a doen\u00e7as mais comuns. De acordo com a <strong>Organiza\u00e7\u00e3o Mundial da Sa\u00fade (OMS)<\/strong>, uma doen\u00e7a \u00e9 considerada rara quando atinge <strong>at\u00e9 65 pessoas a cada 100 mil habitantes<\/strong>.<\/p>\n\n\n\n<p>Apesar da baixa preval\u00eancia individual, o impacto coletivo \u00e9 significativo: estima-se que existam <strong>entre 6 mil e 8 mil doen\u00e7as raras no mundo<\/strong>, e cerca de <strong>13 milh\u00f5es de brasileiros convivem com alguma delas<\/strong>. Aproximadamente <strong>80% dessas condi\u00e7\u00f5es t\u00eam origem gen\u00e9tica<\/strong>, enquanto outras podem estar relacionadas a fatores infecciosos, ambientais ou imunol\u00f3gicos.<\/p>\n\n\n\n<h2 class=\"wp-block-heading\" id=\"h-dia-nacional-das-doencas-raras-por-que-existe\"><span class=\"ez-toc-section\" id=\"Dia_Nacional_das_Doencas_Raras_%E2%80%93_Por_que_existe\"><\/span><strong>Dia Nacional das Doen\u00e7as Raras &#8211; Por que existe?<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n\n\n<p>O <strong>\u00faltimo dia de fevereiro foi escolhido pela <em>Rare Disease European <\/em>como data para conscientiza\u00e7\u00e3o do p\u00fablico geral sobre as singularidades de sa\u00fade daquelas pessoas portadores de doen\u00e7as raras. <\/strong>Detalhes como a oferta de tratamento, oportunidades sociais e pesquisa em inova\u00e7\u00f5es de cuidado s\u00e3o assuntos que devem ser relembrados e debatidos constantemente, mas principalmente nessa data.\u00a0\u00a0<\/p>\n\n\n\n<figure class=\"wp-block-image size-large\"><a href=\"https:\/\/www.grupomedcof.com.br\/cofletters\/\" target=\"_blank\" rel=\" noreferrer noopener\"><img loading=\"lazy\" decoding=\"async\" width=\"1024\" height=\"320\" src=\"https:\/\/www.grupomedcof.com.br\/blog\/wp-content\/uploads\/2025\/02\/Banner-MedCof-Plus-2200x460-11-1024x320.png\" alt=\"\" class=\"wp-image-33723\" srcset=\"https:\/\/www.grupomedcof.com.br\/blog\/wp-content\/uploads\/2025\/02\/Banner-MedCof-Plus-2200x460-11-1024x320.png 1024w, https:\/\/www.grupomedcof.com.br\/blog\/wp-content\/uploads\/2025\/02\/Banner-MedCof-Plus-2200x460-11-300x94.png 300w, https:\/\/www.grupomedcof.com.br\/blog\/wp-content\/uploads\/2025\/02\/Banner-MedCof-Plus-2200x460-11-768x240.png 768w, https:\/\/www.grupomedcof.com.br\/blog\/wp-content\/uploads\/2025\/02\/Banner-MedCof-Plus-2200x460-11-1536x480.png 1536w, https:\/\/www.grupomedcof.com.br\/blog\/wp-content\/uploads\/2025\/02\/Banner-MedCof-Plus-2200x460-11-2048x640.png 2048w, https:\/\/www.grupomedcof.com.br\/blog\/wp-content\/uploads\/2025\/02\/Banner-MedCof-Plus-2200x460-11-1343x420.png 1343w, https:\/\/www.grupomedcof.com.br\/blog\/wp-content\/uploads\/2025\/02\/Banner-MedCof-Plus-2200x460-11-150x47.png 150w, https:\/\/www.grupomedcof.com.br\/blog\/wp-content\/uploads\/2025\/02\/Banner-MedCof-Plus-2200x460-11-696x218.png 696w, https:\/\/www.grupomedcof.com.br\/blog\/wp-content\/uploads\/2025\/02\/Banner-MedCof-Plus-2200x460-11-1068x334.png 1068w, https:\/\/www.grupomedcof.com.br\/blog\/wp-content\/uploads\/2025\/02\/Banner-MedCof-Plus-2200x460-11-1920x600.png 1920w\" sizes=\"auto, (max-width: 1024px) 100vw, 1024px\" \/><\/a><\/figure>\n\n\n\n<h2 class=\"wp-block-heading\" id=\"h-quais-sao-as-doencas-raras-do-brasil\"><span class=\"ez-toc-section\" id=\"Quais_sao_as_doencas_raras_do_Brasil\"><\/span><strong>Quais s\u00e3o as doen\u00e7as raras do Brasil?<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n\n\n<p>Existem milhares de doen\u00e7as raras catalogadas. Algumas s\u00e3o mais conhecidas porque contam com protocolos de diagn\u00f3stico e tratamento mais estruturados no sistema de sa\u00fade.<\/p>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"Fibrose_cistica\"><\/span><strong>Fibrose c\u00edstica<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p>A <strong>Fibrose C\u00edstica<\/strong> \u00e9 uma doen\u00e7a gen\u00e9tica que afeta principalmente <strong>os pulm\u00f5es e o sistema digestivo<\/strong>. Ela provoca o ac\u00famulo de muco espesso nas vias respirat\u00f3rias, dificultando a respira\u00e7\u00e3o e favorecendo infec\u00e7\u00f5es pulmonares recorrentes.<\/p>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"Distrofia_muscular_de_Duchenne\"><\/span><strong>Distrofia muscular de Duchenne<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p>A <strong>Distrofia Muscular de Duchenne<\/strong> \u00e9 uma doen\u00e7a gen\u00e9tica que provoca <strong>degenera\u00e7\u00e3o progressiva dos m\u00fasculos<\/strong>. Geralmente se manifesta na inf\u00e2ncia e pode comprometer a mobilidade e a fun\u00e7\u00e3o card\u00edaca ao longo da vida.<\/p>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"Esclerose_lateral_amiotrofica_ELA\"><\/span><strong>Esclerose lateral amiotr\u00f3fica (ELA)<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p>A <strong>ELA<\/strong> \u00e9 uma doen\u00e7a neurodegenerativa progressiva que afeta os neur\u00f4nios respons\u00e1veis pelos movimentos volunt\u00e1rios. Com o tempo, ocorre <strong>perda progressiva da for\u00e7a muscular<\/strong>, dificultando atividades como falar, engolir e respirar.<\/p>\n\n\n\n<h3 class=\"wp-block-heading\" id=\"h-doenca-falciforme\"><span class=\"ez-toc-section\" id=\"Doenca_Falciforme\"><\/span><strong>Doenca Falciforme&nbsp;<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p>A <strong>Anemia Falciforme<\/strong> \u00e9 uma doen\u00e7a heredit\u00e1ria causada por uma muta\u00e7\u00e3o no gene da hemoglobina, resultando na substitui\u00e7\u00e3o do \u00e1cido glut\u00e2mico por valina. Essa altera\u00e7\u00e3o leva \u00e0 polimeriza\u00e7\u00e3o das hemoglobinas mutadas, deformando os gl\u00f3bulos vermelhos em forma de foice.<\/p>\n\n\n\n<figure class=\"wp-block-image\"><img decoding=\"async\" src=\"https:\/\/lh7-rt.googleusercontent.com\/docsz\/AD_4nXfXHWtKzOJFOOTGdUpFt3UhrtpK5Y7CLfewmA5CwPHaWrbq5a9wIjViOjx3jbT9wkyCqjyRJs4Lwbeftl5EvDf6OjgUKMZEDdoGCWMuTpKWlBAVIXNi_kR1-OgckIR2vISM34hzfA?key=J5HSvLFwDyFlM0bVTZe0VKZV\" alt=\"\"\/><figcaption class=\"wp-element-caption\">Fonte: <a href=\"https:\/\/pin.it\/7y2Nhgtgf\">https:\/\/pin.it\/7y2Nhgtgf<\/a>&nbsp;<\/figcaption><\/figure>\n\n\n\n<p>Essa falciza\u00e7\u00e3o causa obstru\u00e7\u00e3o do fluxo sangu\u00edneo, hem\u00f3lise intravascular e um processo inflamat\u00f3rio sist\u00eamico. A hem\u00f3lise libera hemoglobina, que gera estresse oxidativo e consome \u00f3xido n\u00edtrico, causando vasoconstri\u00e7\u00e3o. A libera\u00e7\u00e3o de arginase 1 e dimetilarginina promove remodelamento vascular, enquanto o grupo heme estimula a libera\u00e7\u00e3o de NETs pelos neutr\u00f3filos, ativando plaquetas e promovendo a vasoclus\u00e3o pulmonar.<\/p>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"Doenca_de_Gaucher\"><\/span><strong>Doen\u00e7a de Gaucher<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p>A <strong>Doen\u00e7a de Gaucher<\/strong> \u00e9 um dist\u00farbio metab\u00f3lico heredit\u00e1rio causado pela defici\u00eancia de uma enzima respons\u00e1vel pela degrada\u00e7\u00e3o de certas gorduras. Isso leva ao <strong>ac\u00famulo de subst\u00e2ncias em \u00f3rg\u00e3os como f\u00edgado, ba\u00e7o e ossos<\/strong>, podendo provocar anemia e aumento abdominal.<\/p>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"Fenilcetonuria\"><\/span><strong>Fenilceton\u00faria<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p>A <strong>Fenilceton\u00faria<\/strong> \u00e9 um erro inato do metabolismo que impede o organismo de metabolizar corretamente o amino\u00e1cido fenilalanina. Sem tratamento adequado, pode causar <strong>atraso no desenvolvimento neurol\u00f3gico<\/strong>, mas o diagn\u00f3stico precoce permite controle com dieta espec\u00edfica.<\/p>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"Epidermolise_bolhosa\"><\/span><strong>Epiderm\u00f3lise bolhosa<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p>A <strong>Epiderm\u00f3lise Bolhosa<\/strong> \u00e9 uma condi\u00e7\u00e3o gen\u00e9tica rara que causa <strong>extrema fragilidade da pele<\/strong>, levando \u00e0 forma\u00e7\u00e3o de bolhas e feridas mesmo com pequenos atritos. Os pacientes frequentemente precisam de cuidados intensivos com a pele ao longo da vida.<\/p>\n\n\n\n<h3 class=\"wp-block-heading\" id=\"h-esclerose-multipla-nbsp\"><span class=\"ez-toc-section\" id=\"Esclerose_Multipla\"><\/span><strong>Esclerose M\u00faltipla&nbsp;<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p>A <strong>Esclerose M\u00faltipla<\/strong> (EM) \u00e9 uma doen\u00e7a autoimune e desmielinizante do sistema nervoso central, caracterizada por epis\u00f3dios recorrentes de disfun\u00e7\u00e3o neurol\u00f3gica. Afeta principalmente mulheres jovens (20-40 anos) caucasianas. Fatores de risco incluem tabagismo, baixos n\u00edveis de vitamina D e infec\u00e7\u00e3o pelo v\u00edrus Epstein-Barr.<\/p>\n\n\n\n<figure class=\"wp-block-image\"><img decoding=\"async\" src=\"https:\/\/lh7-rt.googleusercontent.com\/docsz\/AD_4nXc_YhB1IpULC7i0zM4j7x2o8juvHF6RJBfQkraMvnfUOI_oZn6CitPui4ahuq_idzq20x9C9C9RksBTUYJ6sD7A0EixD2lqQNW7pAJICTaUHte69yXbFIA31gHYGUcKPg4kHRpe1w?key=J5HSvLFwDyFlM0bVTZe0VKZV\" alt=\"\"\/><figcaption class=\"wp-element-caption\">Diagn\u00f3stico por imagem usando o crit\u00e9rio: \u201cDedos de Dawson\u201d. Fonte: Epos.myesr.org&nbsp;<br><\/figcaption><\/figure>\n\n\n\n<p>Os sintomas incluem neurite \u00f3ptica (dor retro-ocular, baixa acuidade visual) e mielite (les\u00e3o medular com sintomas sensitivos). O diagn\u00f3stico \u00e9 feito pelos crit\u00e9rios de McDonald 2017, com resson\u00e2ncia magn\u00e9tica e an\u00e1lise do l\u00edquor. O tratamento de surtos envolve metilprednisolona, enquanto a manuten\u00e7\u00e3o utiliza drogas como Acetato de Glatir\u00e2mer e Fingolimode.<\/p>\n\n\n\n<h2 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"Por_que_o_diagnostico_das_doencas_raras_e_dificil\"><\/span><strong>Por que o diagn\u00f3stico das doen\u00e7as raras \u00e9 dif\u00edcil?<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n\n\n<p>Pacientes com doen\u00e7as raras frequentemente enfrentam uma longa jornada at\u00e9 o diagn\u00f3stico. Isso ocorre porque:<\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li>Muitas doen\u00e7as apresentam <strong>sintomas semelhantes a condi\u00e7\u00f5es mais comuns<\/strong>;<\/li>\n\n\n\n<li>H\u00e1 <strong>pouco conhecimento m\u00e9dico sobre algumas s\u00edndromes raras<\/strong>;<\/li>\n\n\n\n<li>Exames espec\u00edficos nem sempre est\u00e3o amplamente dispon\u00edveis.<\/li>\n<\/ul>\n\n\n\n<p>Estima-se que um paciente possa passar por <strong>diversos profissionais de sa\u00fade antes de receber o diagn\u00f3stico correto<\/strong>, o que torna a conscientiza\u00e7\u00e3o sobre essas condi\u00e7\u00f5es ainda mais importante.<\/p>\n\n\n\n<h2 class=\"wp-block-heading\" id=\"h-legislacao\"><span class=\"ez-toc-section\" id=\"Legislacao\"><\/span><strong>Legisla\u00e7\u00e3o<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n\n\n<p>De acordo com a <strong>portaria n\u00b0 199\/2014<\/strong>, que institui a <strong>Pol\u00edtica Nacional de Aten\u00e7\u00e3o Integral \u00e0s Pessoas com Doen\u00e7as Raras<\/strong>, esse grupo deve usufruir de deveres impostos na lei para que alcancem uma melhor qualidade de vida, sendo eles:\u00a0<\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li>Redu\u00e7\u00e3o da mortalidade e das manifesta\u00e7\u00f5es secund\u00e1rias, por meio de a\u00e7\u00f5es de promo\u00e7\u00e3o, preven\u00e7\u00e3o, detec\u00e7\u00e3o precoce, tratamento oportuno, redu\u00e7\u00e3o de incapacidade e cuidados paliativos;<\/li>\n\n\n\n<li>Acesso a universalidade, a integralidade e equidade das a\u00e7\u00f5es de servi\u00e7o de sa\u00fade;&nbsp;<\/li>\n\n\n\n<li>garantia, em tempo oportuno, de acesso aos meios diagn\u00f3sticos e terap\u00eauticos dispon\u00edveis, conforme suas necessidades;<\/li>\n\n\n\n<li>Integra\u00e7\u00e3o social positiva e de acordo com suas particularidades.<\/li>\n<\/ul>\n\n\n\n<h2 class=\"wp-block-heading\" id=\"como-conquistar-a-aprova\u00e7\u00e3o-na-resid\u00eancia\"><span class=\"ez-toc-section\" id=\"Como_conquistar_a_aprovacao_na_residencia\"><\/span><strong>Como conquistar a aprova\u00e7\u00e3o na resid\u00eancia?<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n\n\n<p>Quer alcan\u00e7ar a aprova\u00e7\u00e3o nas provas de resid\u00eancia m\u00e9dica? Ent\u00e3o seja um\u00a0<a href=\"https:\/\/www.grupomedcof.com.br\/home\/\">MedCofer<\/a>! Aqui te ajudaremos na busca da aprova\u00e7\u00e3o com conte\u00fados de qualidade e uma\u00a0<a href=\"https:\/\/www.grupomedcof.com.br\/blog\/presenca-da-medcof-nas-aprovacoes-em-residencia-medica-no-brasil\/\">metodologia que j\u00e1 aprovou mais de 35 mil residentes no pa\u00eds!\u00a0<\/a>Por fim, acesse o nosso<a href=\"https:\/\/www.youtube.com\/@GrupoMedcof\/featured\">\u00a0<strong>canal do youtube\u00a0<\/strong><\/a>para ver o nosso material.<\/p>\n\n\n\n<figure class=\"wp-block-embed is-type-video is-provider-youtube wp-block-embed-youtube wp-embed-aspect-16-9 wp-has-aspect-ratio\"><div class=\"wp-block-embed__wrapper\">\n<div class=\"youtube-embed\" data-video_id=\"TH724UiCOT4\"><iframe loading=\"lazy\" title=\"Esclerose M\u00faltipla: O Que voc\u00ea precisa saber sobre os Sintomas e Tratamentos. 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