{"id":7325,"date":"2026-07-20T14:24:11","date_gmt":"2026-07-20T13:24:11","guid":{"rendered":"https:\/\/neuropsiquiatria.pt\/?p=7325"},"modified":"2026-07-20T14:25:16","modified_gmt":"2026-07-20T13:25:16","slug":"a-doenca-dos-acores-porque-a-machado-joseph-e-mais-frequente-nas-ilhas","status":"publish","type":"post","link":"https:\/\/neuropsiquiatria.pt\/en\/a-doenca-dos-acores-porque-a-machado-joseph-e-mais-frequente-nas-ilhas\/","title":{"rendered":"\u201cThe Azores Disease\u201d: Why Machado-Joseph\u2019s disease is more common on the islands"},"content":{"rendered":"<div data-elementor-type=\"wp-post\" data-elementor-id=\"7325\" class=\"elementor elementor-7325\" data-elementor-post-type=\"post\">\n\t\t\t\t<div class=\"elementor-element elementor-element-4e0ca7b e-flex e-con-boxed e-con e-parent\" data-id=\"4e0ca7b\" data-element_type=\"container\" data-e-type=\"container\">\n\t\t\t\t\t<div class=\"e-con-inner\">\n\t\t\t\t<div class=\"elementor-element elementor-element-487f6a5 elementor-widget elementor-widget-text-editor\" data-id=\"487f6a5\" data-element_type=\"widget\" data-e-type=\"widget\" data-widget_type=\"text-editor.default\">\n\t\t\t\t<div class=\"elementor-widget-container\">\n\t\t\t\t\t\t\t\t\t<p class=\"font-claude-response-body break-words whitespace-normal\" data-sourcepos=\"3:1-3:285;45-329\"><strong>Short answer:<\/strong> Machado-Joseph disease is known as the \u201cAzores disease\u201d because the first cases detected were all found in Azorean families. However, it is not a disease exclusive to the Azores: it is found on every continent.<\/p>\t\t\t\t\t\t\t\t<\/div>\n\t\t\t\t<\/div>\n\t\t\t\t<div class=\"elementor-element elementor-element-254d030 elementor-widget elementor-widget-post-info\" data-id=\"254d030\" data-element_type=\"widget\" data-e-type=\"widget\" data-widget_type=\"post-info.default\">\n\t\t\t\t<div class=\"elementor-widget-container\">\n\t\t\t\t\t\t\t<ul class=\"elementor-inline-items elementor-icon-list-items elementor-post-info\">\n\t\t\t\t\t\t\t\t<li class=\"elementor-icon-list-item elementor-repeater-item-87d2c88 elementor-inline-item\" itemprop=\"datePublished\">\n\t\t\t\t\t\t<a href=\"https:\/\/neuropsiquiatria.pt\/en\/2026\/07\/20\/\">\n\t\t\t\t\t\t\t\t\t\t\t<span class=\"elementor-icon-list-icon\">\n\t\t\t\t\t\t\t\t<svg aria-hidden=\"true\" class=\"e-font-icon-svg e-fas-calendar\" viewbox=\"0 0 448 512\" xmlns=\"http:\/\/www.w3.org\/2000\/svg\"><path d=\"M12 192h424c6.6 0 12 5.4 12 12v260c0 26.5-21.5 48-48 48H48c-26.5 0-48-21.5-48-48V204c0-6.6 5.4-12 12-12zm436-44v-36c0-26.5-21.5-48-48-48h-48V12c0-6.6-5.4-12-12-12h-40c-6.6 0-12 5.4-12 12v52H160V12c0-6.6-5.4-12-12-12h-40c-6.6 0-12 5.4-12 12v52H48C21.5 64 0 85.5 0 112v36c0 6.6 5.4 12 12 12h424c6.6 0 12-5.4 12-12z\"><\/path><\/svg>\t\t\t\t\t\t\t<\/span>\n\t\t\t\t\t\t\t\t\t<span class=\"elementor-icon-list-text elementor-post-info__item elementor-post-info__item--type-date\">\n\t\t\t\t\t\t\t\t\t\t<time>20 July 2026<\/time>\t\t\t\t\t<\/span>\n\t\t\t\t\t\t\t\t\t<\/a>\n\t\t\t\t<\/li>\n\t\t\t\t<\/ul>\n\t\t\t\t\t\t<\/div>\n\t\t\t\t<\/div>\n\t\t\t\t<div class=\"elementor-element elementor-element-406b8067 elementor-widget elementor-widget-text-editor\" data-id=\"406b8067\" data-element_type=\"widget\" data-e-type=\"widget\" data-widget_type=\"text-editor.default\">\n\t\t\t\t<div class=\"elementor-widget-container\">\n\t\t\t\t\t\t\t\t\t<p><img fetchpriority=\"high\" decoding=\"async\" class=\"alignnone size-full wp-image-7371\" src=\"https:\/\/neuropsiquiatria.pt\/wp-content\/uploads\/2026\/07\/ilha-acores-doenca-machado-joseph.webp\" alt=\"Vista a\u00e9rea de uma vila costeira na ilha Graciosa, nos A\u00e7ores, rodeada por campos verdes, associada \u00e0 maior frequ\u00eancia da Doen\u00e7a Machado-Joseph nas ilhas a\u00e7orianas.\" width=\"1536\" height=\"1024\" srcset=\"https:\/\/neuropsiquiatria.pt\/wp-content\/uploads\/2026\/07\/ilha-acores-doenca-machado-joseph.webp 1536w, https:\/\/neuropsiquiatria.pt\/wp-content\/uploads\/2026\/07\/ilha-acores-doenca-machado-joseph-300x200.webp 300w, https:\/\/neuropsiquiatria.pt\/wp-content\/uploads\/2026\/07\/ilha-acores-doenca-machado-joseph-1024x683.webp 1024w, https:\/\/neuropsiquiatria.pt\/wp-content\/uploads\/2026\/07\/ilha-acores-doenca-machado-joseph-768x512.webp 768w, https:\/\/neuropsiquiatria.pt\/wp-content\/uploads\/2026\/07\/ilha-acores-doenca-machado-joseph-18x12.webp 18w\" sizes=\"(max-width: 1536px) 100vw, 1536px\" \/><\/p><h2>Why is Machado-Joseph known as the \u201cAzores disease\u201d?\u201d<\/h2><p>The association between the <a href=\"https:\/\/neuropsiquiatria.pt\/en\/doenca-machado-joseph\/\"><strong>Machado-Joseph disease (MDJ\/MJD)<\/strong><\/a> and the Azores archipelago came into being as a result of two factors.<\/p><p>Firstly, the disease was identified in several <strong>families of Azorean origin<\/strong>, all over the world.<\/p><p>Secondly, because they are so common on the islands \u2014 particularly on the <strong>Flowers<\/strong> and in the <strong>Graciosa<\/strong> \u2014 is among the highest recorded in the world.<\/p><p>The explanation is, at the same time, <strong>genetics<\/strong> e <strong>historic<\/strong>: a common ancestor is thought to have passed on the mutation in the gene responsible for the condition, which then became concentrated within a small, isolated population, largely because it is an island.<\/p><p>But the name can be misleading. The <strong>Machado-Joseph disease<\/strong> It is not exclusively Azorean, nor even exclusively Portuguese. Its connection to the Azores explains its <strong>documented origin<\/strong> and <strong>high local prevalence<\/strong> \u2014 not exclusive.<\/p><h2>Where Does the Name \u201cMachado-Joseph\u201d Come From?\u201d<\/h2><p>Unlike most diseases, which are named after the doctor who described them, this one owes its name to <strong>two families of Azorean emigrants<\/strong>.<\/p><p>In the 1970s, in the United States, researchers identified patterns of symptoms that described similar neurological conditions in descendants of Azoreans, and the first descriptions were linked to the surnames of these two families \u2014 <strong>Machado<\/strong> e <strong>Joseph<\/strong>.<\/p><p>As science advanced, it became clear that these conditions were manifestations of <strong>the same disease, with the same genetic cause<\/strong>. It was then given the technical designation of <strong><em>spinocerebellar ataxia type 3<\/em><\/strong> (<strong>SCA3<\/strong>). Today, the two terms coexist and refer to the same condition.<\/p><div class=\"nota-importante\"><strong>The name is not a diagnosis.<\/strong> To be of Azorean descent <strong>no<\/strong> means having, or going on to have, the condition \u2014 the overwhelming majority of people with roots in the islands do not carry the genetic mutation. An individual\u2019s risk depends on whether or not they carry the mutation <strong>within the family itself<\/strong>, and only genetic tests and studies can assess this on a case-by-case basis.<\/div><h2>Why is the Prevalence So High in the Azores?<\/h2><p>There is nothing mysterious about the high frequency on the islands: it is the <strong>foreseeable consequence<\/strong> on how genetics behaves in small, isolated populations.<\/p><p>Machado-Joseph is transmitted in a way that <strong>autosomal dominant<\/strong> \u2014 in simple terms, <strong>it is enough to inherit the mutation from one of the parents<\/strong> in order for the condition to develop. Only one parent needs to carry this gene. This dominant pattern means that the mutation is easily passed down from one generation to the next.<\/p><p>So, if <strong>one of the parents<\/strong> If they have the genetic mutation, each child has <strong>50%<\/strong> of the likelihood of inheriting and developing the disease. If the mutation were <strong>recessive<\/strong> \u2014 that is to say, <strong>if two amended copies were required<\/strong> \u2014 he would have a son <strong>0%<\/strong> the probability of developing the disease when only one parent was a carrier and <strong>25%<\/strong> when both were carriers.<\/p><h3>The founding effect<\/h3><p>When a small group of people gives rise to an entire population \u2014 as happened during the colonisation of isolated islands \u2014 the genetic characteristics of those few \u201cfounders\u201d remain <strong>over-represented<\/strong> in subsequent generations.<\/p><p>If one of the founders carried the mutation, it becomes, in that population, <strong>a much greater burden<\/strong> than he would have on a continent, where he would be lost amongst millions of people.<\/p><p>Over the centuries, in a closed island community, frequency accumulates \u2014 and that is why the <strong>Flowers<\/strong> and <strong>Graciosa<\/strong> have some of the highest diagnostic rates per 1,000 (one thousand) inhabitants in the world.<\/p><h3>Emigration did the rest<\/h3><p>O <strong>the Azores archipelago<\/strong> It is, historically speaking, a region from which many have set out and have set out in the past <strong>emigrants<\/strong> to other continents, particularly in the 19th and 20th centuries, to the <strong>The United States, Brazil and Canada<\/strong>.<\/p><p>The genetic mutation travelled with people \u2014 which is why the disease was eventually described for the first time <strong>outside Portugal<\/strong>, in the United States. The \u201cAzores disease\u201d spread along the routes taken by those who left.<\/p><h2>A Global Illness, Not Just a Portuguese One<\/h2><p>Although it was first documented amongst Azoreans and is particularly common on the islands, the Machado-Joseph variant exists in <strong>many populations with no connection whatsoever to the Azores<\/strong>.<\/p><p>A <a href=\"https:\/\/pmc.ncbi.nlm.nih.gov\/articles\/PMC3123549\/\"><strong>SCA3 is the most common form of hereditary spinocerebellar ataxia worldwide<\/strong><\/a>, with cases reported in Asia, the Americas and across Europe \u2014 some with their own genetic origins, independent of the Azorean lineage.<\/p><p><strong>In other words<\/strong>: its Azorean origins explain the extremely high local prevalence, but do not make Machado-Joseph a \u201cPortuguese\u201d or \u201cisland\u201d condition. It is a <strong>human genetic disorder<\/strong>, which probably arose spontaneously as a genetic mutation some time after the first cases were reported in the Azores.<\/p><div class=\"dica-valiosa\"><strong>If there are any cases of Machado-Joseph syndrome in your family, please gather as much information as you can before your first appointment: who was affected, in which generation, and at what age the first symptoms appeared.<\/strong> A simple family tree, even if incomplete, is one of the most valuable pieces of information that can lead to a <a href=\"https:\/\/neuropsiquiatria.pt\/en\/neurologia\/\"><strong>neurology consultation<\/strong><\/a> \u2014 and significantly speeds up clinical guidance.<\/div><h2>What the Azorean Community Has Taught Science<\/h2><p>The concentration of affected families in the Azores has transformed the region into a <strong>a first-rate scientific contribution<\/strong>.<\/p><p>Following several generations within a stable community has made it possible to study <strong>how the disease is transmitted, how it progresses and how it varies from person to person<\/strong> \u2014 information that is difficult to obtain from more scattered populations.<\/p><p>It was also against this backdrop that the following developments took place in Portugal, <strong>pioneering genetic counselling programmes<\/strong>, now an international benchmark, which have paved the way for informed decisions on genetic testing and family counselling.<\/p><p>The history of this disease is, to a large extent, the history of <strong>a community that helped ensure that science could help it<\/strong>.<\/p><div class=\"pontos-chave\"><h2>\ud83e\udde0 Key Points to Retain<\/h2><ul><li>Machado-Joseph disease became known as the \u201cAzores disease\u201d because it was first identified in Azorean families and because its prevalence on the islands is among the highest in the world.<\/li><li>The name comes from two families of emigrants \u2014 the Machados and the Josephs; technically, it is known as spinocerebellar ataxia type 3 (SCA3).<\/li><li>The high local prevalence can be explained by the <strong>founding effect<\/strong>: in a small, isolated population, a change in a common ancestor is concentrated across generations.<\/li><li>The condition is inherited in an autosomal dominant pattern \u2014 it is sufficient to inherit the mutation from just one parent.<\/li><li>Emigration from the Azores spread the disease to various countries.<\/li><li>Despite its name, it is neither exclusively Azorean nor Portuguese: SCA3 is the most common form of hereditary ataxia worldwide.<\/li><li>The study of Azorean families has been crucial to scientific understanding and to genetic counselling.<\/li><\/ul><\/div><h2><span style=\"text-decoration: underline;\">FAQs \u2013 Frequently Asked Questions<\/span><\/h2><h3>Does Machado-Joseph disease only occur in the Azores?<\/h3><p>No. It was first documented in Azorean families and is very common on the islands, but it occurs in populations all over the world \u2014 many of which have no connection whatsoever to the Azores.<\/p><h3>Why does it bear the names of two families?<\/h3><p>This is because the condition was first described in the 1970s in the United States in two families of Azorean immigrants \u2014 the Machados and the Josephs. It was later realised that this was a single condition, which was also given the technical name SCA3.<\/p><h3>Does having Azorean ancestry increase my risk?<\/h3><p>Not in itself \u2014 the overwhelming majority of people with Azorean roots do not carry the condition. The risk depends on whether or not the mutation is present in the family itself. Those with known cases should seek specialist genetic counselling.<\/p><h3>Did emigration spread the disease to other countries?<\/h3><p>To some extent, yes. Emigration has taken families \u2014 and the genetic variation \u2014 to various countries. There are, however, populations in other parts of the world with their own genetic origins, independent of the Azorean lineage.<\/p><h3>\u201cAre \u201dMachado-Joseph\u201c and \u201dSCA3\u201d the same thing?<\/h3><p>Yes. These are two names for the same condition: the first, historical, is linked to the families in which it was first described; the second, technical, is used in international medical literature.<\/p>\t\t\t\t\t\t\t\t<\/div>\n\t\t\t\t<\/div>\n\t\t\t\t\t<\/div>\n\t\t\t\t<\/div>\n\t\t\t\t<\/div>","protected":false},"excerpt":{"rendered":"<p>Resposta curta: a Doen\u00e7a de Machado-Joseph \u00e9 conhecida como &#8220;doen\u00e7a dos A\u00e7ores&#8221; porque os primeiros casos detetados tinham em comum fam\u00edlias a\u00e7orianas. Mas n\u00e3o \u00e9 uma doen\u00e7a exclusivamente a\u00e7oriana: existe em todos os continentes. Porque Chamam \u00e0 Machado-Joseph a &#8220;Doen\u00e7a dos A\u00e7ores&#8221; A associa\u00e7\u00e3o entre a Doen\u00e7a de Machado-Joseph (MDJ\/MJD) e o arquip\u00e9lago dos A\u00e7ores [&hellip;]<\/p>\n","protected":false},"author":1,"featured_media":7371,"comment_status":"open","ping_status":"open","sticky":false,"template":"","format":"standard","meta":{"footnotes":""},"categories":[1],"tags":[45],"class_list":["post-7325","post","type-post","status-publish","format-standard","has-post-thumbnail","hentry","category-geral","tag-novo-layout"],"aioseo_notices":[],"aioseo_head":"\n\t\t<!-- All in One SEO 4.9.9 - aioseo.com -->\n\t<meta name=\"description\" content=\"Resposta curta: a Doen\u00e7a de Machado-Joseph \u00e9 conhecida como \u201cdoen\u00e7a dos A\u00e7ores\u201d porque os primeiros casos detetados tinham em comum fam\u00edlias a\u00e7orianas. Mas n\u00e3o \u00e9 uma doen\u00e7a exclusivamente a\u00e7oriana: existe em todos os continentes. 20 July, 2026 Porque Chamam \u00e0 Machado-Joseph a \u201cDoen\u00e7a dos A\u00e7ores\u201dA associa\u00e7\u00e3o entre a Doen\u00e7a de Machado-Joseph (MDJ\/MJD) e o arquip\u00e9lago\" \/>\n\t<meta name=\"author\" content=\"Jos\u00e9 Santos\"\/>\n\t<meta name=\"msvalidate.01\" content=\"4C76B1466303CE72305A14CF456C3592\" \/>\n\t<link rel=\"canonical\" href=\"https:\/\/neuropsiquiatria.pt\/en\/a-doenca-dos-acores-porque-a-machado-joseph-e-mais-frequente-nas-ilhas\/\" \/>\n\t<meta name=\"generator\" content=\"All in One SEO (AIOSEO) 4.9.9\" \/>\n\t\t<meta property=\"og:locale\" content=\"en_GB\" \/>\n\t\t<meta property=\"og:site_name\" content=\"Neuropsiquiatria - O equil\u00edbrio entre Corpo e Mente\" \/>\n\t\t<meta property=\"og:type\" content=\"article\" \/>\n\t\t<meta property=\"og:title\" content=\"A \u201cDoen\u00e7a dos A\u00e7ores\u201d: Porque a Machado-Joseph \u00e9 Mais Frequente nas Ilhas\" \/>\n\t\t<meta property=\"og:description\" content=\"Resposta curta: a Doen\u00e7a de Machado-Joseph \u00e9 conhecida como \u201cdoen\u00e7a dos A\u00e7ores\u201d porque os primeiros casos detetados tinham em comum fam\u00edlias a\u00e7orianas. 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