{"id":1849,"date":"2023-09-26T11:12:47","date_gmt":"2023-09-26T08:12:47","guid":{"rendered":"https:\/\/ringdoc.ro\/resurse-medicale\/?p=1849"},"modified":"2024-08-25T14:15:58","modified_gmt":"2024-08-25T11:15:58","slug":"amitrofia-spinala-cauze","status":"publish","type":"post","link":"https:\/\/ringdoc.ro\/resurse-medicale\/amitrofia-spinala-cauze\/","title":{"rendered":"Amitrofia Spinal\u0103"},"content":{"rendered":"\t\t<div data-elementor-type=\"wp-post\" data-elementor-id=\"1849\" class=\"elementor elementor-1849\" data-elementor-post-type=\"post\">\n\t\t\t\t<div class=\"elementor-element elementor-element-368854ce e-flex e-con-boxed e-con e-parent\" data-id=\"368854ce\" 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-38710847 elementor-widget elementor-widget-text-editor\" data-id=\"38710847\" 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<div data-id=\"c5f3d37\" data-element_type=\"container\"><div><div data-id=\"b12a389\" data-element_type=\"widget\" data-widget_type=\"text-editor.default\"><div><p>Amitrofia spinal\u0103 este o afec\u021biune autozomal recesiv\u0103, determinat\u0103 de muta\u021bii la nivelul cromozomului \u00a05 \u2013 gena SMN (deletia homozigota a exonului 7). Amiotrofia spinal\u0103 (<b>AMS<\/b>) este de mai multe tipuri, \u00een func\u021bie de v\u00e2rsta debutului simptomatologiei.<\/p><p>AMS se caracterizeaz\u0103 \u00een esen\u021b\u0103 prin distrugerea primitiv\u0103 \u0219i moartea prin apoptoza corpilor celulari ai neuronilor periferici din m\u0103duva spin\u0103rii \u0219i cei ai nucleilor motori ai trunchiului cerebral.<\/p><\/div><\/div><\/div><\/div>\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-4a29375 elementor-widget elementor-widget-text-editor\" data-id=\"4a29375\" 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<table width=\"712\"><tbody><tr><td width=\"200\"><p><strong>Tip I<\/strong><\/p><\/td><td width=\"160\"><p><strong>Tip II<\/strong><\/p><\/td><td width=\"176\"><p><strong>Tip III<\/strong><\/p><\/td><td width=\"176\"><p><strong>Tip 0<\/strong><\/p><\/td><\/tr><tr><td width=\"200\"><p>&lt;6l<\/p><\/td><td width=\"160\"><p>&lt;18l<\/p><\/td><td width=\"176\"><p>&gt;18l<\/p><\/td><td width=\"176\"><p>prenatal<\/p><\/td><\/tr><tr><td width=\"200\"><p>Nu stau in sezut fara sprijin<\/p><\/td><td width=\"160\"><p>Nu pot merge fara sprijin<\/p><\/td><td width=\"176\"><p>Achizitia mersului<\/p><\/td><td width=\"176\"><p>Fara achizitii motorii<\/p><\/td><\/tr><tr><td width=\"200\"><p>Deces ~2a<\/p><\/td><td width=\"160\"><p>Deces dupa 2 ani<\/p><\/td><td width=\"176\"><p>Deces in perioada de adult<\/p><\/td><td width=\"176\"><p>Deces in primele 3l<\/p><\/td><\/tr><\/tbody><\/table>\t\t\t\t\t\t\t\t<\/div>\n\t\t\t\t<\/div>\n\t\t<div class=\"elementor-element elementor-element-2c1d477 e-con-full e-flex e-con e-child\" data-id=\"2c1d477\" data-element_type=\"container\" data-e-type=\"container\">\n\t\t\t\t<div class=\"elementor-element elementor-element-db7bbe3 elementor-widget__width-initial elementor-widget elementor-widget-image\" data-id=\"db7bbe3\" data-element_type=\"widget\" data-e-type=\"widget\" data-widget_type=\"image.default\">\n\t\t\t\t<div class=\"elementor-widget-container\">\n\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t<img fetchpriority=\"high\" decoding=\"async\" width=\"800\" height=\"800\" src=\"https:\/\/ringdoc.ro\/resurse-medicale\/wp-content\/uploads\/2023\/09\/transmiterea-autozomat-recesiva-1200x1200.jpg\" class=\"attachment-large size-large wp-image-1851\" alt=\"Transmiterea autozomal recesiv\u0103 in AMS\" srcset=\"https:\/\/ringdoc.ro\/resurse-medicale\/wp-content\/uploads\/2023\/09\/transmiterea-autozomat-recesiva-1200x1200.jpg 1200w, https:\/\/ringdoc.ro\/resurse-medicale\/wp-content\/uploads\/2023\/09\/transmiterea-autozomat-recesiva-300x300.jpg 300w, https:\/\/ringdoc.ro\/resurse-medicale\/wp-content\/uploads\/2023\/09\/transmiterea-autozomat-recesiva-150x150.jpg 150w, https:\/\/ringdoc.ro\/resurse-medicale\/wp-content\/uploads\/2023\/09\/transmiterea-autozomat-recesiva-768x768.jpg 768w, https:\/\/ringdoc.ro\/resurse-medicale\/wp-content\/uploads\/2023\/09\/transmiterea-autozomat-recesiva.jpg 1283w\" sizes=\"(max-width: 800px) 100vw, 800px\" \/>\t\t\t\t\t\t\t\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-c7cb5a7 elementor-widget__width-initial elementor-widget elementor-widget-image\" data-id=\"c7cb5a7\" data-element_type=\"widget\" data-e-type=\"widget\" data-widget_type=\"image.default\">\n\t\t\t\t<div class=\"elementor-widget-container\">\n\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t<img decoding=\"async\" width=\"800\" height=\"455\" src=\"https:\/\/ringdoc.ro\/resurse-medicale\/wp-content\/uploads\/2023\/09\/diagnostic-ams.png\" class=\"attachment-large size-large wp-image-1852\" alt=\"Diagnosticare AMS, amitrofia spinala\" srcset=\"https:\/\/ringdoc.ro\/resurse-medicale\/wp-content\/uploads\/2023\/09\/diagnostic-ams.png 837w, https:\/\/ringdoc.ro\/resurse-medicale\/wp-content\/uploads\/2023\/09\/diagnostic-ams-300x171.png 300w, https:\/\/ringdoc.ro\/resurse-medicale\/wp-content\/uploads\/2023\/09\/diagnostic-ams-768x437.png 768w\" sizes=\"(max-width: 800px) 100vw, 800px\" \/>\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t<\/div>\n\t\t\t\t<\/div>\n\t\t\t\t<\/div>\n\t\t\t\t<div class=\"elementor-element elementor-element-61b284dc elementor-widget elementor-widget-heading\" data-id=\"61b284dc\" data-element_type=\"widget\" data-e-type=\"widget\" data-widget_type=\"heading.default\">\n\t\t\t\t<div class=\"elementor-widget-container\">\n\t\t\t\t\t<h4 class=\"elementor-heading-title elementor-size-default\">AMS tip I (sau boala Werdnig - Hoffmann)<\/h4>\t\t\t\t<\/div>\n\t\t\t\t<\/div>\n\t\t\t\t<div class=\"elementor-element elementor-element-7b06bb8 elementor-widget elementor-widget-text-editor\" data-id=\"7b06bb8\" 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<div data-id=\"c5f3d37\" data-element_type=\"container\"><div data-id=\"b12a389\" data-element_type=\"widget\" data-widget_type=\"text-editor.default\"><p>Debutul este sub 6 luni de via\u021b\u0103, av\u00e2nd achizi\u021bii maxime sus\u021binerea capului.<\/p><p><strong>Clinic\u00a0<\/strong> \u2013 sc\u0103derea motilit\u0103\u021bii la nivel proximal al membrelor, mai accentuat la cele inferioare.<\/p><p>Sugarii au mi\u0219c\u0103ri active segmentare destul de s\u0103race. Deficitul se generalizeaz\u0103 \u00een c\u00e2teva s\u0103pt\u0103m\u00e2ni \u0219i pierd abilitatea de a-\u0219i sus\u021bine capul sau chiar nu au deloc aceast\u0103 achizi\u021bie.<\/p><p>Paralizia muschilor intercostali este foarte frecvant\u0103 \u0219i omniprezent\u0103 \u2013 apare o deprimare paradoxal\u0103 a cutiei toracice \u00een inspir, iar abdomenul se expansioneaz\u0103 \u2013 respira\u021bie paradoxal\u0103.<\/p><p>Mastica\u021bia \u0219i suptul sunt deficitare \u2013 obosesc repede, ulterior refuz\u0103 alimentarea \u0219i scad \u00een greutate.<\/p><p>Reflexele osteo-tendinoase (ROT) sunt abolite sau chiar inexistente.<\/p><p>Fascicula\u021biile la nivelul limbii sunt prezente in majoritatea cazurilor.<\/p><p>Cognitiv, bebelu\u0219ii prezint\u0103 achizi\u021bii psihice \u00een pofida faptului c\u0103 nu au achizi\u021bii motorii.<\/p><\/div><\/div>\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-f6ad842 elementor-widget elementor-widget-heading\" data-id=\"f6ad842\" data-element_type=\"widget\" data-e-type=\"widget\" data-widget_type=\"heading.default\">\n\t\t\t\t<div class=\"elementor-widget-container\">\n\t\t\t\t\t<h4 class=\"elementor-heading-title elementor-size-default\">AMS tip II  (forma intermediar\u0103)<\/h4>\t\t\t\t<\/div>\n\t\t\t\t<\/div>\n\t\t\t\t<div class=\"elementor-element elementor-element-ac50683 elementor-widget elementor-widget-text-editor\" data-id=\"ac50683\" 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<div data-id=\"c5f3d37\" data-element_type=\"container\"><div data-id=\"b12a389\" data-element_type=\"widget\" data-widget_type=\"text-editor.default\"><p>Debutul este intre 6 si 18 luni, iar achizi\u021bia maxima motorie este pozi\u021bia \u0219ez\u00e2nd f\u0103r\u0103 sprijin.<\/p><p>Clinic \u2013 Tonus muscular sc\u0103zut \u00eenc\u0103 de la na\u0219tere sau \u00een primele luni de via\u021b\u0103, ace\u0219tia pot prezenta discrete \u0219i lente achizi\u021bii motorii ap\u0103r\u00e2nd astfel \u00eent\u00e2rzierea \u00een achizi\u021biile motorii. La fel ca si in AMS tip lI este prezent\u0103 hipotonia, dar deficitul motor u\u0219or mai pu\u021bin intens \u2013 reu\u0219e\u0219te s\u0103 achizi\u021bioneze \u0219ezutul, de obicei cu sprijin \u00een trepied, pot duce obiecte la gur\u0103, dar rar pot ridica bra\u021bele deasupra capului.<\/p><p>Reflexele osteo-tendinoase sunt \u00eentotdeauna abolite, cele de la nivelul membrelor superior pot fi reg\u0103site dar se pierd ulterior.<\/p><p>Tulbur\u0103ri de degluti\u021bie nu sunt frecvente, dar apare deficit al mu\u0219chilor masticatori.<\/p><p>Fascicula\u021biile limbii sunt prezente in aproximativ 70% din cazurile cu AMS tip II.<\/p><\/div><\/div>\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-ae6c61c elementor-widget elementor-widget-heading\" data-id=\"ae6c61c\" data-element_type=\"widget\" data-e-type=\"widget\" data-widget_type=\"heading.default\">\n\t\t\t\t<div class=\"elementor-widget-container\">\n\t\t\t\t\t<h4 class=\"elementor-heading-title elementor-size-default\">AMS tip III (sau boala Kugelberg-Welander)<\/h4>\t\t\t\t<\/div>\n\t\t\t\t<\/div>\n\t\t\t\t<div class=\"elementor-element elementor-element-6493572 elementor-widget elementor-widget-text-editor\" data-id=\"6493572\" 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<div data-id=\"c5f3d37\" data-element_type=\"container\"><div data-id=\"b12a389\" data-element_type=\"widget\" data-widget_type=\"text-editor.default\"><p>Debutul este dup\u0103 v\u00e2rsta de 18 luni \u2013 poate chiar doar la v\u00e2rsta adult\u0103, cu achizi\u021bii motorii maxime av\u00e2nd chiar \u0219i mersul independent.<\/p><p>Clinic \u2013 afectare pulmonara cu impact sc\u0103zut pentru calitatea vie\u021bii fata de tipurile I si II. Scolioza este problema majora la jum\u0103tate din ace\u0219ti pacien\u021bi, nu este atat de severa ca la cei cu AMS tip II. Subluxa\u021bia de sold, \u00een schimb, este frecvent\u0103.<\/p><p>AMS este o boala ce necesit\u0103 echip\u0103 multidisciplinar\u0103 pentru o calitate a vie\u021bii c\u00e2t mai bun\u0103. Sunt implica\u021bi medici de\u00a0 neurologie pediatrica, pediatrie, recuperare medical\u0103 si kinetoterapie, ortopedie pediatric\u0103, genetic\u0103 \u2013 sfat genetic pentru p\u0103rin\u021bi, psihoterapie de asemenea este necesar\u0103.<\/p><p>Evaluarea neurologic\u0103 este foarte important\u0103 pentru o diagnosticare c\u00e2t mai timpurie. Cu cat mai repede cu atat mai multe beneficii asupra calit\u0103\u021bii vie\u021bii. Medicul elibereaz\u0103 un voucher pentru testare genetica gratuit\u0103, \u00een baza simptomatologiei \u00een urma consultului, iar dup\u0103 confirmarea acestuia urmeaz\u0103 pa\u0219ii pentru ini\u021bierea tratamentului. Este foarte important faptul ca, aceasta boala, de\u0219i este rara, are tratament .<\/p><p><strong>Risdiplam<\/strong>\u00a0(<em>Evrysdi, Roche \u0219i PTC Therapeutics<\/em>) este prima terapie cu\u00a0<strong>administrare oral\u0103<\/strong>\u00a0pentru\u00a0<strong>AMS<\/strong>, indicat\u0103 \u00een cazul adul\u021bilor \u0219i copiilor cu v\u00e2rsta mai mare de 2 luni,\u00a0<a href=\"https:\/\/www.fda.gov\/news-events\/press-announcements\/fda-approves-oral-treatment-spinal-muscular-atrophy\">aprobat\u0103 de\u00a0<em>Food and Drug Administration (FDA)<\/em>.<\/a>\u00a0Risdiplam reprezint\u0103 una dintre pu\u021binele op\u021biuni terapeutice pentru atrofia muscular\u0103 spinal\u0103. \u00cen prezent, moleculele cu indica\u021bie \u00een AMS sunt\u00a0<a href=\"https:\/\/raportuldegarda.ro\/articol\/fda-aprobat-zolgensma-prima-terapie-genica-atrofia-musculara-spinala\/\"><strong>Zolgensma\u00a0<\/strong><\/a>(<em>onasemnogene abeparvovec-xioi<\/em>), prima terapie genic\u0103 indicat\u0103 \u00een atrofia muscular\u0103 spinal\u0103 pentru cei cu v\u00e2rste mai mici de 2 ani \u0219i\u00a0<strong>Spinraza\u00a0<\/strong><em>(nusinersen)<\/em><strong>,<\/strong>\u00a0prima terapie modificatoare de boal\u0103 aprobat\u0103 \u00een 2016 de FDA pentru tipurile I-III de AMS.<\/p><p>Eficien\u021ba tratamentului cu Risdiplam a fost efectuata cu ajutorul a\u00a0 4 studii<\/p><p>clinice,\u00a0<a href=\"https:\/\/clinicaltrials.gov\/ct2\/show\/NCT02913482\"><em>FIREFISH<\/em><\/a><em>,\u00a0<\/em><a href=\"https:\/\/clinicaltrials.gov\/ct2\/show\/NCT02908685\"><em>SUNFISH<\/em><\/a>,\u00a0<a href=\"https:\/\/clinicaltrials.gov\/ct2\/show\/NCT03032172\"><em>JEWELFISH<\/em><\/a>\u00a0\u0219i\u00a0<a href=\"https:\/\/clinicaltrials.gov\/ct2\/show\/NCT03779334\"><em>RAINBOWFISH<\/em><\/a>. Aprobarea medicamentului a survenit \u00een urma rezultatalor studiilor<em>\u00a0<\/em><a href=\"https:\/\/clinicaltrials.gov\/ct2\/show\/NCT02913482\"><em>FIREFISH<\/em><\/a>\u00a0\u0219i\u00a0<a href=\"https:\/\/clinicaltrials.gov\/ct2\/show\/NCT02908685\"><em>SUNFISH<\/em><\/a><em>,<\/em>\u00a0care au evaluat evolu\u021bia pacien\u021bilor diagnostica\u021bi cu\u00a0AMS de tip I (forma sever\u0103 infantil\u0103, boala\u00a0<em>Werdnig-Hoffmann<\/em>) \u0219i respectiv, AMS de tip II (forma intermediar\u0103, infantil\u0103 cronic\u0103) sau AMS de tip III (forma u\u015foar\u0103, juvenil\u0103, boala\u00a0<em>Kugelberg-Welander<\/em>).<\/p><p>Studiul\u00a0<em>FIREFISH<\/em>\u00a0s-a realizat pe 21 de participan\u021bi cu v\u00e2rste cuprinse \u00eentre 1 \u0219i 7 luni, diagnostica\u021bi cu atrofie muscular\u0103 spinal\u0103 tip I \u0219i la care au fost identificate 2 copii ale genei SMN2. Risdiplam a fost administrat zilnic, timp de 4 s\u0103pt\u0103m\u00e2ni, \u00een doze diferite. Datele ob\u021binute au relevat urm\u0103toarele aspecte:<\/p><ul><li>41% dintre pacien\u021bi au reu\u0219it s\u0103 stea in \u0219ezut mai mult de 5 secunde f\u0103r\u0103 suport\u00a0la 12 luni de tratament;<\/li><li>81% dintre pacien\u021bi au supravie\u021buit dup\u0103 23 de luni de tratament\u00a0f\u0103r\u0103 a necesita ventila\u021bie mecanic\u0103;<\/li><li>proteina SMN a \u00eenregistrat\u00a0o cre\u0219tere de 6,5 ori\u00a0la pacien\u021bii care au primit tratament cu Risdiplam, fa\u021b\u0103 de nivelul de baz\u0103.<\/li><\/ul><p>Beneficiile tratamentului cu Risdiplam pentru AMS de tip II \u0219i III au fost evaluate concomitent \u00een cadrul studiului\u00a0 dublu-orb SUNFISH, desf\u0103\u0219urat \u00een dou\u0103 etape. \u00cen prima parte s-a stabilit doza optim\u0103 de administrare, urm\u00e2nd ca \u00een etapa II s\u0103 fie analizat\u0103 eficien\u021ba tratamentului cu Risdiplam. Cea de-a doua parte a studiului a inclus 180 de pacien\u021bi \u00eentre 2 \u0219i 25 de ani, cu diagnostic de AMS tip II sau III.\u00a0Obiectivul principal a constat \u00een m\u0103surarea func\u021biei motorii cu ajutorul scalei Motor Function Measure 32 (MFM-32) dup\u0103 1 an de tratament cu Risdiplam, comparativ cu administrarea de placebo.\u00a0Rezultatele au fost dup\u0103 cum urmeaz\u0103:<\/p><ul><li>Cei care au primit Risdiplam au \u00eenregistrat\u00a0o cre\u0219tere de 1.36 ori mai mare a func\u021biei motorii\u00a0comparativ cu grupul placebo, unde pacien\u021bii au avut func\u021bia motorie redus\u0103 fa\u021b\u0103 de punctul de plecare;<\/li><li>Cel mai bun r\u0103spuns la tratament conform MFM-32 a fost observat \u00een grupul de pacien\u021bi tineri (2-5 ani);<\/li><li>57,1% dintre pacien\u021bii \u00een grupa de v\u00e2rst\u0103 18-25 de ani au stagnat sub tratamentul cu Risdiplam, f\u0103r\u0103 a prezenta regres dpdv al deficitului motor,\u00a0comparativ cu doar 37,5% din grupul de placebo.<\/li><\/ul><p>\u00cen prezent, atrofia muscular\u0103 spinal\u0103 beneficiaz\u0103 de 3 op\u021biuni terapeutice (toate acestea av\u00e2nd aprobare FDA).<\/p><ol><li>\u00cen 2016 \u00een S.U.A.\u00a0s-a implementat Spinraza\u00a0(Nusinersen), prima terapie modificatoare de boal\u0103 indicat\u0103 \u00een AMS tipurile I-III. La fel ca \u0219i Risdiplam, Nusinersen ac\u021bioneaz\u0103 prin reglarea expresiei ARN-ului mesager pentru pentru gena SMN2. Diferen\u021ba major\u0103 const\u0103 \u00een modul de administrare.\u00a0Tratamentul cu Spinraza presupune injec\u021bii administrate intratecal (\u00een lichidul cefalorahidian care \u00eenconjoar\u0103 m\u0103duva spin\u0103rii) pentru tot restul vie\u021bii pacien\u021bilor;<\/li><li><a href=\"https:\/\/raportuldegarda.ro\/articol\/fda-aprobat-zolgensma-prima-terapie-genica-atrofia-musculara-spinala\/\">Zolgensma\u00a0a fost aprobat\u0103 de FDA \u00een 2019<\/a>\u00a0\u0219i este indicat\u0103 la pacien\u021bii cu v\u00e2rste sub 2 ani cu atrofie muscular\u0103 spinal\u0103, av\u00e2nd muta\u021bie bialelic\u0103 la nivelul genei SMN1.\u00a0Zolgensma este administrat o singur\u0103 dat\u0103, intravenos\u00a0\u0219i ac\u021bioneaz\u0103 prin introducerea genei SMN1 func\u021bionale \u00een corp. Astfel, proteina SMN va fi sintetizat\u0103 corespunz\u0103tor;<\/li><li>Risdiplam, singura terapie cu administrare oral\u0103, indicat\u0103 \u00een tipurile I-III de AMS, aprobat\u0103 de FDA \u00een 2020.<\/li><\/ol><p>Zolgensma este a 2-a terapie genic\u0103 aprobat\u0103 de FDA, dup\u0103\u00a0<a href=\"https:\/\/raportuldegarda.ro\/articol\/breaking-news-luxturna-terapie-genica-ue-distrofia-retiniana-ereditara\/\">Luxturna<\/a>.<\/p><p>Din fericire, astazi exista si in tara noastra tratamentul ideal pentru acest tip de boala.<\/p><p>Exista asocia\u021bii care sprijin\u0103 p\u0103rin\u021bii pentru a putea gestiona c\u00e2t mai bine nevoile celui mic.\u00a0<\/p><\/div><\/div>\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-59f5df3 elementor-widget elementor-widget-text-editor\" data-id=\"59f5df3\" 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<div data-id=\"c5f3d37\" data-element_type=\"container\"><div data-id=\"b12a389\" data-element_type=\"widget\" data-widget_type=\"text-editor.default\"><div data-id=\"69063da\" data-element_type=\"container\"><div><div data-id=\"97d4e7a\" data-element_type=\"widget\" data-widget_type=\"text-editor.default\"><div><p>AMS afecteaz\u0103 aproximativ<strong> 1 din 10.000 <\/strong>na\u0219teri vii\u00a0 la nivel mondial, fiind cea mai \u00eent\u00e2lnit\u0103 cauz\u0103 genetic\u0103 de deces \u00een r\u00e2ndul sugarilor. Boala este cauzat\u0103 de o muta\u021bie\/dele\u0163ie la nivelul genei SMN1, ceea ce conduce la niveluri sc\u0103zute ale proteinei de supravie\u021buire a neuronilor motori (SMN). Aceast\u0103 protein\u0103 se reg\u0103se\u0219te \u00een \u00eentreg organismul \u015fi are un rol vital \u00een func\u021bionarea sistemului nervos. Tratamentul este vital pentru evolu\u021bie cat mai buna!<\/p><\/div><\/div><\/div><\/div><\/div><\/div>\t\t\t\t\t\t\t\t<\/div>\n\t\t\t\t<\/div>\n\t\t<div class=\"elementor-element elementor-element-1533723 e-con-full e-grid e-con e-child\" data-id=\"1533723\" data-element_type=\"container\" data-e-type=\"container\">\n\t\t<div class=\"elementor-element elementor-element-f74c882 e-con-full e-flex e-con e-child\" data-id=\"f74c882\" data-element_type=\"container\" data-e-type=\"container\">\n\t\t\t\t<div class=\"elementor-element elementor-element-1da145f elementor-widget elementor-widget-image\" data-id=\"1da145f\" data-element_type=\"widget\" data-e-type=\"widget\" data-widget_type=\"image.default\">\n\t\t\t\t<div class=\"elementor-widget-container\">\n\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t<a href=\"https:\/\/ringdoc.ro\/patient\/medicProfile\/7405\">\n\t\t\t\t\t\t\t<img decoding=\"async\" src=\"https:\/\/blog.ringdoc.ro\/wp-content\/uploads\/2022\/12\/dr-lascu-madalina-neurologie-pediatrica.jpg\" title=\"\" alt=\"Dr. Lascu Madalina - neurologie pediatrica Constanta\" loading=\"lazy\" \/>\t\t\t\t\t\t\t\t<\/a>\n\t\t\t\t\t\t\t\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-935dc6f elementor-widget elementor-widget-text-editor\" data-id=\"935dc6f\" 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><span style=\"color: #ff6a39;\"><strong><a style=\"background-color: #ffffff; color: #ff6a39;\" href=\"https:\/\/ringdoc.ro\/patient\/medicProfile\/7405\" target=\"_blank\" rel=\"noopener\">Dr. M\u0103d\u0103lina Lascu<\/a><\/strong><\/span><br \/>Medic specialist neurologie pediatric\u0103<\/p>\t\t\t\t\t\t\t\t<\/div>\n\t\t\t\t<\/div>\n\t\t\t\t<\/div>\n\t\t<div class=\"elementor-element elementor-element-5a1899a e-con-full e-flex e-con e-child\" data-id=\"5a1899a\" data-element_type=\"container\" data-e-type=\"container\">\n\t\t\t\t<div class=\"elementor-element elementor-element-a7ee30d elementor-widget elementor-widget-heading\" data-id=\"a7ee30d\" data-element_type=\"widget\" data-e-type=\"widget\" data-widget_type=\"heading.default\">\n\t\t\t\t<div class=\"elementor-widget-container\">\n\t\t\t\t\t<h4 class=\"elementor-heading-title elementor-size-default\">Bibliografie<\/h4>\t\t\t\t<\/div>\n\t\t\t\t<\/div>\n\t\t\t\t<div class=\"elementor-element elementor-element-84d82ef elementor-widget elementor-widget-text-editor\" data-id=\"84d82ef\" 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<ul><li>Neurologie Pediatrica \u2013 Conf.Dr.dana Craiu, Catrinel Iliescu Editura Universitara \u201cCarol davila\u201d Bucure\u0219ti 2013<br \/><br \/><\/li><li><a href=\"https:\/\/raportuldegarda.ro\/atrofia-musculara-spinala-diagnostic-tratament-precoce\/\">https:\/\/raportuldegarda.ro\/atrofia-musculara-spinala-diagnostic-tratament-precoce\/<\/a><br \/><br \/><\/li><li><a href=\"https:\/\/assets.roche.com\/f\/172042\/x\/be135a3d46\/pr_220608_roche_medicament-atrofie-musculara-spinala.pdf\">https:\/\/assets.roche.com\/f\/172042\/x\/be135a3d46\/pr_220608_roche_medicament-atrofie-musculara-spinala.pdf<\/a><br \/><br \/><\/li><li><a href=\"http:\/\/www.saptamanamedicala.ro\/articole\/Terapie-inovatoare-disponibila-pentru-pacientii-cu-atrofie-musculara-spinala-din-Romania\">http:\/\/www.saptamanamedicala.ro\/articole\/Terapie-inovatoare-disponibila-pentru-pacientii-cu-atrofie-musculara-spinala-din-Romania<\/a><\/li><\/ul>\t\t\t\t\t\t\t\t<\/div>\n\t\t\t\t<\/div>\n\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>\n\t\t","protected":false},"excerpt":{"rendered":"<p>Amitrofia spinal\u0103 este o afec\u021biune autozomal recesiv\u0103, determinat\u0103 de muta\u021bii la nivelul cromozomului \u00a05 \u2013 gena SMN (deletia homozigota a exonului 7). Amiotrofia spinal\u0103 (AMS) este de mai multe tipuri, \u00een func\u021bie de v\u00e2rsta debutului simptomatologiei. AMS se caracterizeaz\u0103 \u00een esen\u021b\u0103 prin distrugerea primitiv\u0103 \u0219i moartea prin apoptoza corpilor celulari ai neuronilor periferici din m\u0103duva [&hellip;]<\/p>\n","protected":false},"author":1,"featured_media":3770,"comment_status":"closed","ping_status":"closed","sticky":false,"template":"","format":"standard","meta":{"footnotes":""},"categories":[57],"tags":[90,89],"class_list":["post-1849","post","type-post","status-publish","format-standard","has-post-thumbnail","hentry","category-neurologie-pediatrica","tag-amitrofie-spinala","tag-ams"],"yoast_head":"<!-- This site is optimized with the Yoast SEO Premium plugin v27.4 (Yoast SEO v27.4) - https:\/\/yoast.com\/product\/yoast-seo-premium-wordpress\/ -->\n<title>Ce este amitrofia spinala<\/title>\n<meta name=\"description\" content=\"Un articol scris de catre un medic despre amitrofia spinala, cauzele si metodele de tratament ale amitrofiei spinale\" \/>\n<meta name=\"robots\" content=\"index, follow, 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