{"id":166202,"date":"2025-07-21T09:39:08","date_gmt":"2025-07-21T09:39:08","guid":{"rendered":"https:\/\/raed.academy\/?p=166202"},"modified":"2025-07-21T09:43:23","modified_gmt":"2025-07-21T09:43:23","slug":"les-malalties-rares-2","status":"publish","type":"post","link":"https:\/\/raed.academy\/ca\/les-malalties-rares-2\/","title":{"rendered":"Les malalties rares"},"content":{"rendered":"
\"August

Dr. August Corominas<\/p><\/div>\n

August Corominas<\/strong><\/em><\/a>, professor de Fisiologia Humana de la Universitat de M\u00farcia<\/strong> i de la Universitat Aut\u00f2noma de Barcelona<\/strong> i acad\u00e8mic em\u00e8rit de la Reial Acad\u00e8mia Europea de Doctors<\/strong> (RAED), comparteix amb la comunitat acad\u00e8mica l’article “Malalties rares”<\/strong>, en el que analitza les patologies minorit\u00e0ries, que no solen rebre ni el diagn\u00f2stic ni el tractament que els afectats necessitarien ni acostumen a ser una prioritat en la recerca m\u00e8dica.\u00a0L’acad\u00e8mic ha compartit recentment en aquesta publicaci\u00f3 els articles “La maldat de Putin”<\/strong><\/a>, “Nou apocalipsi i batalla d’Armagedon”<\/strong><\/a>, “Ser vell o no”<\/strong><\/a>, “Anti-Aging”<\/strong><\/a>,\u00a0 “Graf\u00e8: un element de gran futur tecnol\u00f2gic”<\/strong><\/a>, “Estad\u00edstica d’Hiroshima”<\/strong><\/a>\u00a0i “Viure a la Lluna”<\/strong><\/a>, “La dieta mediter\u00e0nia”<\/strong><\/a>, “Els dif\u00edcils inicis de Can Ruti”<\/strong><\/a>, Els secrets de la longevitat i les ‘zones blaves’<\/strong><\/a>, “Atenci\u00f3 a les caigudes, de nit i de dia”<\/strong><\/a>,\u00a0“La bona vida i la vida bona”<\/strong><\/a>, “Vida biol\u00f2gica i Vida Qu\u00e0ntica”<\/strong><\/a>, “Hospitals intel\u00b7ligents”<\/strong><\/a>, “Cosmon\u00e0utica i medicina espacial”<\/strong><\/a>, “El maltractament i la seva gesti\u00f3”<\/strong><\/a>, “Biologia qu\u00e0ntica”<\/strong><\/a>, “El negre de Banyoles (boixim\u00e0 o hotentot)”<\/strong><\/a>, “Polidact\u00edlia”<\/strong><\/a>, “Adolesc\u00e8ncia, edat cr\u00edtica de la vida humana”<\/strong><\/a>, “Les sirenes, il\u00b7lusi\u00f3 de navegants i homes de mar”<\/strong><\/a> i “Alimentaci\u00f3 b\u00edblica: aliments purs i aliments impurs”<\/strong><\/a>. A m\u00e9s \u00e9s autor d’un dels cap\u00edtols del llibre “Vitalidad al envejecer. Si lo deseas, puedes vivir m\u00e1s a\u00f1os con salud”<\/strong>, editat per la Reial Corporaci\u00f3 amb el suport de Vichy Catal\u00e1n<\/strong>.<\/p>\n

Malalties rares<\/h2>\n

\"\"Les malalties rares, tamb\u00e9 anomenades malalties poc freq\u00fcents, s\u00f3n aquelles que afecten un nombre redu\u00eft de persones en comparaci\u00f3 amb la poblaci\u00f3 general. A Europa, es consideren rares aquelles que afecten menys de cinc de cada 10.000 persones. Malgrat la seva baixa prevalen\u00e7a individual, existeixen entre 6.000 i 8.000 malalties rares identificades, i s’estima que afecten m\u00e9s de 30 milions de persones a Europa. Aquestes s\u00f3n les deu malalties rares m\u00e9s freq\u00fcents; \u00e9s a dir, les m\u00e9s comunes dins d’aquest grup minoritari:<\/p>\n

    \n
  1. Fibrosi qu\u00edstica.
    \n\u00c9s una malaltia gen\u00e8tica que afecta principalment els pulmons i el sistema digestiu. Causa una producci\u00f3 excessiva de moc esp\u00e8s. La seva prevalen\u00e7a \u00e9s d’1\/2.500 a 1\/3.500 persones a Europa.
    \nS\u00edndrome de Marfan.<\/li>\n
  2. Trastorn hereditari del teixit connectiu. Afecta el cor, ulls, vasos sanguinis i esquelet. La seva prevalen\u00e7a \u00e9s d’1\/5.000 persones.<\/li>\n
  3. Distr\u00f2fies musculars (com\u00a0Duchenne\u00a0i\u00a0Becker).
    \nGrup de malalties gen\u00e8tiques que causen debilitat muscular progressiva. Duchenne \u00e9s una de les m\u00e9s greus i freq\u00fcents en homes. Prevalen\u00e7a de Duchenne: ~1\/3.500 homes.<\/li>\n
  4. Esclerosi lateral amiotr\u00f2fica (ELA).
    \nMalaltia neurodegenerativa que afecta les neurones motrius. Provoca par\u00e0lisi progressiva. Prevalen\u00e7a: ~3 a 5 per cada 100.000 persones.<\/li>\n
  5. Neurofibromatosi tipus 1 (NF1).
    \nTrastorn gen\u00e8tic que causa tumors a nervis i canvis a la pell. Prevalen\u00e7a: ~1\/3.000 persones.<\/li>\n
  6. Malaltia de Huntington.
    \nMalaltia heredit\u00e0ria neurodegenerativa. Afecta el moviment, el pensament i la conducta. Prevalen\u00e7a: ~5 a 10 per 100.000 persones.<\/li>\n
  7. Malaltia de\u00a0Gaucher.
    \nTrastorn metab\u00f2lic hereditari causat per la defici\u00e8ncia d\u2019un enzim. Afecta melsa, fetge i medul\u00b7la \u00f2ssia. Prevalen\u00e7a: ~1\/50.000 a 1\/100.000, m\u00e9s com\u00fa en certs grups (com jueus asquenazita).<\/li>\n
  8. S\u00edndrome de\u00a0Rett.
    \nTrastorn neurol\u00f2gic que afecta gaireb\u00e9 exclusivament nenes. Provoca p\u00e8rdua d\u2019habilitats motrius i del llenguatge. Prevalen\u00e7a: ~1\/10.000 a 1\/15.000 nenes.<\/li>\n
  9. Atr\u00f2fia muscular espinal (AME).
    \nMalaltia gen\u00e8tica que afecta les neurones motrius. Hi ha diversos tipus, segons edat d’aparici\u00f3 i severitat. Prevalen\u00e7a: ~1\/6.000 a 1\/10.000 de persones.<\/li>\n
  10. S\u00edndrome de\u00a0Prader-Willi.
    \nTrastorn gen\u00e8tic complex que afecta el metabolisme, gana, creixement i conducta. Prevalen\u00e7a: ~1\/15.000 a 1\/30.000 persones.<\/li>\n<\/ol>\n

    Des de l’any 1966 he tingut inter\u00e8s per aquestes malalties. Dif\u00edcils de diagn\u00f2stics i de tractament. Vaig fer un estudi sobre distr\u00f2fia muscular progressiva en les seves diverses classes, per\u00f2 especialment de Duchenne. Estudi cl\u00ednic, gen\u00e8tic i enzim\u00e0tica. En una malaltia lligada que afecta homes i que transmeten les dones. S\u00f3n malalties amb una esperan\u00e7a de vida molt limitada, amb m\u00ednimes possibilitats de recuperaci\u00f3. Avui no ha millorat gaire l’esperan\u00e7a de vida, per\u00f2 el tractament rehabilitador i fisioterap\u00e8utic.<\/p>\n","protected":false},"excerpt":{"rendered":"

    August Corominas analitza les patologies minorit\u00e0ries, que no solen rebre ni el diagn\u00f2stic ni el tractament que els afectats necessitarien ni solen ser una prioritat en la investigaci\u00f3 m\u00e8dica, a l’article “Malalties rares”<\/p>\n","protected":false},"author":12,"featured_media":166150,"comment_status":"closed","ping_status":"closed","sticky":false,"template":"","format":"standard","meta":{"_et_pb_use_builder":"","_et_pb_old_content":"","_et_gb_content_width":"","footnotes":""},"categories":[332,455,442,213],"tags":[],"class_list":["post-166202","post","type-post","status-publish","format-standard","has-post-thumbnail","hentry","category-biologia-ca","category-ciencies-de-la-salut","category-ciencies-farmaceutiques-ciencies-de-la-salut","category-medicina-i-cirurgia","et-has-post-format-content","et_post_format-et-post-format-standard"],"yoast_head":"\nLes malalties rares - Reial Acad\u00e8mia Europea de Doctors<\/title>\n<meta name=\"description\" content=\"August Corominas analitza les patologies minorit\u00e0ries, que no solen rebre ni el diagn\u00f2stic ni el tractament que els afectats necessitarien\" \/>\n<meta name=\"robots\" content=\"index, follow, max-snippet:-1, max-image-preview:large, max-video-preview:-1\" \/>\n<link rel=\"canonical\" href=\"https:\/\/raed.academy\/ca\/les-malalties-rares-2\/\" \/>\n<meta property=\"og:locale\" content=\"ca_ES\" \/>\n<meta property=\"og:type\" content=\"article\" \/>\n<meta property=\"og:title\" content=\"Les malalties rares - 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