{"id":72897,"date":"2020-11-03T13:28:50","date_gmt":"2020-11-03T13:28:50","guid":{"rendered":"http:\/\/humanitasnet-new.local\/malattie\/misicna-distrofija\/"},"modified":"2025-01-13T03:18:54","modified_gmt":"2025-01-13T03:18:54","slug":"misicna-distrofija","status":"publish","type":"disease","link":"https:\/\/humanitas-net.humweb.webiz.team\/sl\/diseases\/misicna-distrofija\/","title":{"rendered":"Mi\u0161i\u010dna distrofija"},"content":{"rendered":"<h2 id=\"opredelitev\">Opredelitev<\/h2>\n<p>Mi\u0161i\u010dna distrofija se pojavi, kadar mutirani geni vplivajo na proizvodnjo beljakovin, ki so potrebne za oblikovanje zdrave mi\u0161ice. Mi\u0161i\u010dna bolezen se nana\u0161a na skupino bolezni, ki vodijo v progresivno \u0161ibkost in izgubo mi\u0161i\u010dne mase. Obstaja veliko razli\u010dnih vrst mi\u0161i\u010dne distrofije. Mi\u0161i\u010dna distrofija lahko prizadene ljudi obeh spolov, katere koli rase ali katere koli starosti. Vendar se najpogostej\u0161i tip Duchenne pojavlja v otro\u0161tvu in na splo\u0161no prizadene fante. Druge vrste se pojavljajo v odrasli dobi. Mi\u0161i\u010dna distrofija lahko s\u010dasoma povzro\u010di nezmo\u017enost hoje, v nekaterih primerih pa ljudje ob\u010dutijo te\u017eavno dihanje in te\u017eavno po\u017eiranje. \u017dal za to bolezen ni zdravil. Nekatera zdravila in terapije lahko zmanj\u0161ajo simptome in upo\u010dasnijo napredek bolezni.<\/p>\n<p>&nbsp;<\/p>\n<h2 id=\"simptomi\">Simptomi<\/h2>\n<p>Osnovni simptom vseh vrst mi\u0161i\u010dne distrofije je progresivna mi\u0161i\u010dna oslabelost. Drugi simptomi se bodo razlikovali glede na starost in mi\u0161i\u010dno skupino.<\/p>\n<p>Razli\u010dne vrste so:<\/p>\n<p>Duchennova mi\u0161i\u010dna distrofija:<\/p>\n<ul>\n<li>polovica primerov mi\u0161i\u010dne distrofije je te vrste<\/li>\n<li>na splo\u0161no prizadene fante (\u010deprav so lahko tudi deklice rahlo prizadete)<\/li>\n<li>ponavadi je vzrok nenadna spontana mutacija genov<\/li>\n<li>simptomi se pojavijo med 2. in 3. letom starosti<\/li>\n<li>simptomi so lahko: ve\u010dkratni padci, te\u017eko vstajanje iz sede\u010dega ali le\u017ee\u010dega polo\u017eaja, te\u017eave s tekom ali skakanjem, hoja na prstih, velika tele, bole\u010dine v mi\u0161icah, togost mi\u0161ic in te\u017eave pri u\u010denju<\/li>\n<\/ul>\n<p>&nbsp;<\/p>\n<p>Beckerjeva mi\u0161i\u010dna distrofija:<\/p>\n<ul>\n<li>simptomi se za\u010dnejo pojavljati v najstni\u0161kih letih, vendar se lahko v celoti ne pojavijo do sredine 20-ih ali kasneje<\/li>\n<li>simptomi so podobni duchenski vrsti mi\u0161i\u010dne distrofije, vendar so ponavadi bla\u017eji in napredujejo po\u010dasi<\/li>\n<\/ul>\n<p>&nbsp;<\/p>\n<p>Miotoni\u010dno (Steinertova bolezen):<\/p>\n<ul>\n<li>najpogostej\u0161i tip med odraslimi<\/li>\n<li>zna\u010dilna nezmo\u017enost sprostitve mi\u0161ic<\/li>\n<li>obrazne in vratne mi\u0161ice so pogosto prve prizadete<\/li>\n<\/ul>\n<p>&nbsp;<\/p>\n<p>Facioscapulohumeral (FSHD):<\/p>\n<ul>\n<li>mi\u0161i\u010dna \u0161ibkost<\/li>\n<li>se za\u010dne v obrazu in ramenih<\/li>\n<li>ramenske lopatice lahko pri dvigovanju roke \u0161trlijo<\/li>\n<li>lahko se za\u010dne v najstni\u0161kih letih ali otro\u0161tvu ali kasneje pri 40. letu<\/li>\n<\/ul>\n<p>&nbsp;<\/p>\n<p>Prirojene:<\/p>\n<ul>\n<li>vpliva na fante in dekleta<\/li>\n<li>o\u010ditno ob rojstvu ali pred 2. letom starosti<\/li>\n<li>v nekaterih primerih po\u010dasi napreduje, povzro\u010da blago invalidnost, v drugih pa hitro napreduje, kar ima za posledico hudo okvaro<\/li>\n<\/ul>\n<p>&nbsp;<\/p>\n<p>Okon\u010dina:<\/p>\n<ul>\n<li>Najprej prizadenejo mi\u0161ice kolka in rame<\/li>\n<li>ljudje s tovrstno distrofijo imajo te\u017eave pri dviganju sprednjega dela stopala, zato je spotikanje pogosta zadeva<\/li>\n<li>se pojavlja v otro\u0161tvu ali najstni\u0161kih letih<\/li>\n<li>Priporo\u010dljivo je, da poi\u0161\u010dete zdravni\u0161ko pomo\u010d, kadar pri otroku ali odrasli osebi opazite mi\u0161i\u010dno \u0161ibkost ali pogosto padanje in nerodnost.<\/li>\n<\/ul>\n<p>&nbsp;<\/p>\n<h2 id=\"vzroki\">Vzroki<\/h2>\n<p>Nekateri geni so del proizvodnje beljakovin, ki \u0161\u010ditijo mi\u0161i\u010dna vlakna in ohranjajo mi\u0161ico pred po\u0161kodbami. Ko je eden od teh genov pokvarjen, se zgodi mi\u0161i\u010dna distrofija. Vsaka mi\u0161i\u010dna distrofija (navedena zgoraj) je povzro\u010dena zaradi mutiranega gena, ki je zna\u010dilen za dolo\u010deno vrsto bolezni. Mnogo mutiranih genov je mogo\u010de podedovati. Nekateri se lahko pojavijo tudi spontano, bodisi v materinem jaj\u010decu ali v zarodku, ki se razvija, in se lahko prenesejo na naslednjo generacijo.<\/p>\n<p>&nbsp;<\/p>\n<h2 id=\"dejavniki-tveganja\">Dejavniki tveganja<\/h2>\n<p>Ljudje, ki imajo v dru\u017eini mi\u0161i\u010dno distrofijo, imajo ve\u010dje tveganje, da razvijejo bolezen ali jo prenesejo na generacijo, ki sledi.<\/p>\n<p>&nbsp;<\/p>\n<h2 id=\"zapleti\">Zapleti<\/h2>\n<p>Zapleti, ki se lahko pojavijo zaradi progresivne mi\u0161i\u010dne oslabelosti, so:<\/p>\n<ul>\n<li>nezmo\u017enost hoje (morda bo potreben invalidski vozi\u010dek)<\/li>\n<li>kontrakture mi\u0161ic<\/li>\n<li>scoliosis<\/li>\n<li>te\u017eave z dihanjem (morda bo potreben ventilator)<\/li>\n<li>te\u017eave s po\u017eiranjem, ki lahko privedejo do podhranjenosti in razvoja aspiracijske plju\u010dnice (morda bo potrebna napajalna cev)<\/li>\n<li>te\u017eave s srcem<\/li>\n<\/ul>\n<p>&nbsp;<\/p>\n<h2 id=\"zdravljenje\">Zdravljenje<\/h2>\n<p>Ker zdravljenja mi\u0161i\u010dne distrofije ni, se zdravljenje osredoto\u010di na prepre\u010devanje ali zmanj\u0161anje te\u017eav, ki se lahko pojavijo. Zdravljenja naj bi ljudem, prizadetim s to boleznijo, omogo\u010dili, da ostanejo \u010dim dlje mobilni. Mo\u017enosti zdravljenja mi\u0161i\u010dne distrofije so: zdravila, fizikalna terapija, operativni posegi in drugi postopki.<\/p>\n<p>Zdravila:<\/p>\n<ul>\n<li>-kortikosteroidi, ki lahko izbolj\u0161ajo mo\u010d mi\u0161ic in odlo\u017eijo napredek nekaterih vrst mi\u0161i\u010dne distrofije, vendar prekomerna uporaba teh zdravil lahko povzro\u010di prekomerno telesno te\u017eo ali \u0161ibke kosti, kar pove\u010da tveganje za zlome<\/li>\n<li>-zdravila, \u010de mi\u0161i\u010dna distrofija prizadene srce<\/li>\n<\/ul>\n<p>&nbsp;<\/p>\n<p>Fizioterapija:<\/p>\n<ul>\n<li>&#8211; vaje v obliki gibanja, ki ohranjajo gibljivost sklepov<\/li>\n<li>-raztezne vaje, ki laj\u0161ajo bole\u010dino in okorelost mi\u0161ice<\/li>\n<li>-Ve\u017ebe, kot so aerobika z majhnim udarcem, hoja in plavanje, obi\u010dajno pomagajo pri ohranjanju mo\u010di, mobilnosti in splo\u0161nega zdravja<\/li>\n<li>&#8211; nekatere vrste krepilnih vaj<\/li>\n<li>-brace, ki bodo podprle \u0161ibke mi\u0161ice in upo\u010dasnile napredovanje kontrakcij<\/li>\n<li>&#8211; pripomo\u010dki za gibanje, kot so: palice, sprehajalci in invalidski vozi\u010dki, ki bolniku omogo\u010dajo mobilnost in neodvisnost<\/li>\n<li>&#8211; naprave za pomo\u010d pri dihanju<\/li>\n<\/ul>\n<p>Kirur\u0161ki poseg &#8211; ki bo popravil morebitno krivljenje hrbtenice, ki s\u010dasoma ote\u017ei dihanje<\/p>\n","protected":false},"featured_media":0,"template":"","class_list":["post-72897","disease","type-disease","status-publish","hentry"],"yoast_head":"<!-- This site is optimized with the Yoast SEO plugin v24.3 - https:\/\/yoast.com\/wordpress\/plugins\/seo\/ -->\n<title>Mi\u0161i\u010dna distrofija - Humanitas.net<\/title>\n<meta name=\"robots\" content=\"noindex, follow, max-snippet:-1, max-image-preview:large, max-video-preview:-1\" \/>\n<meta property=\"og:locale\" content=\"sl_SI\" \/>\n<meta property=\"og:type\" content=\"article\" \/>\n<meta property=\"og:title\" content=\"Mi\u0161i\u010dna distrofija - Humanitas.net\" \/>\n<meta property=\"og:description\" content=\"Opredelitev Mi\u0161i\u010dna distrofija se pojavi, kadar mutirani geni vplivajo na proizvodnjo beljakovin, ki so potrebne za oblikovanje zdrave mi\u0161ice. Mi\u0161i\u010dna bolezen se nana\u0161a na skupino bolezni, ki vodijo v progresivno \u0161ibkost in izgubo mi\u0161i\u010dne mase. Obstaja veliko razli\u010dnih vrst mi\u0161i\u010dne distrofije. Mi\u0161i\u010dna distrofija lahko prizadene ljudi obeh spolov, katere koli rase ali katere koli starosti. 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