{"id":54109,"date":"2018-03-07T17:22:13","date_gmt":"2018-03-07T14:22:13","guid":{"rendered":"https:\/\/sanatate.md\/?page_id=54109"},"modified":"2018-03-12T18:54:07","modified_gmt":"2018-03-12T15:54:07","slug":"amiotrofiile-spinale","status":"publish","type":"page","link":"https:\/\/sanatate.md\/ro\/boli-si-tratament\/boli-ale-sistemului-musculo-scheletic-traumatisme\/amiotrofiile-spinale\/","title":{"rendered":"Amiotrofiile spinale"},"content":{"rendered":"<p>Amiotrofiile spinale reprezint\u0103 un grup de afec\u0163iuni degenerative cu transmitere genetic\u0103 autozomal recesiv\u0103, care afecteaz\u0103 neuronii din m\u0103duva spin\u0103rii, adesea si pe cei din trunchiul cerebral, duc\u00e2nd la moartea acestora cu pierdere de mas\u0103 muscular\u0103 \u015fi sc\u0103dere de for\u0163\u0103.<\/p>\n<p>Severitatea maladiei este influen\u0163at\u0103 de v\u00e2rsta de debut a afec\u0163iunii: cu c\u00e2t boala debuteaz\u0103 mai precoce cu at\u00e2t este mai sever\u0103. Aceast\u0103 boal\u0103 poate s\u0103 apar\u0103 at\u00e2t la copii c\u00e2t \u0219i la v\u00e2rstnici. Amiotrofia spinal\u0103 la copii este caracterizat\u0103 de tremurul membrelor superioare, ca urmare a dezvolt\u0103rii sl\u0103biciunii musculare.\u00a0Mai ales un astfel de tremur se manifest\u0103 atunci c\u00e2nd copilul \u00ee\u0219i \u00eentinde bra\u021bele \u00eenainte.<\/p>\n<p>Amiotrofia spinal\u0103 la adul\u021bi este mo\u0219tenit\u0103, de regul\u0103, prin tipul autosomal recesiv.\u00a0Aceast\u0103 boal\u0103 este de origine genetic\u0103.<\/p>\n<h3>Simptomatologia<\/h3>\n<p>Un simptom comun pentru toate tipurile de amiotrofie spinal\u0103 este paralizia flacid\u0103 a leziunii simetrice cu procese atrofice musculare \u00een combina\u021bie cu prezen\u021ba fascicul\u0103\u0163iilor.<\/p>\n<h3>Clasificarea<\/h3>\n<p>Atrofia muscular\u0103 spinal\u0103 este \u00eemp\u0103r\u021bit\u0103 \u00een bolile adulte \u0219i \u00een copil\u0103rie.<\/p>\n<p>Amiotrofia la copii:<\/p>\n<ul>\n<li>amiotrofia spinal\u0103 dup\u0103 Werding;<\/li>\n<li>forma juvenil\u0103 dup\u0103 Kugelberg;<\/li>\n<li>forma cronic\u0103 a amiotrofiei spinale infantile;<\/li>\n<li>sindromul Vialetto-Van Lare \u0219i al\u021bii.<\/li>\n<\/ul>\n<p>La pacien\u021bii adul\u021bi se dezvolt\u0103:<\/p>\n<ul>\n<li>amiotrofie spinal\u0103 dup\u0103 Hoffmann;<\/li>\n<li>forma bulbospinal\u0103 dup\u0103 Kennedy;<\/li>\n<li>forma distal\u0103 a bolii;<\/li>\n<li>forma scapuloperoneal\u0103;<\/li>\n<li>forma oculofaringian\u0103;<\/li>\n<li>forma monomelic\u0103 etc.<\/li>\n<\/ul>\n<p>La copii aceast\u0103 boal\u0103 poate s\u0103 debuteze \u00een primele luni de via\u021b\u0103 \u0219i mai t\u00e2rziu. Este\u00a0diagnosticat\u0103 \u015fi amiotrofia congenital\u0103 a spin\u0103rii. Formele pentru adul\u021bi se pot manifesta \u015fi la 16, \u0219i 60 de ani. Ea se desf\u0103\u0219oar\u0103 \u00eentr-o stare benign\u0103.<\/p>\n<p>Mai exist\u0103 o clasificare:<\/p>\n<ul>\n<li>forma izolat\u0103 &#8211; predomin\u0103 \u00eenfr\u00e2ngerea motoneutronilor spinali, care este singurul simptom al bolii;<\/li>\n<li>forma combinat\u0103 &#8211; simptome de amiotrofie a spatelui \u0219i a altor procese patologice de natur\u0103 neurologic\u0103.<\/li>\n<\/ul>\n<p>E foarte periculoas\u0103 combinarea amiotrofiei spinale cu boala de inim\u0103, fracturi congenitale, surditate etc.<\/p>\n<h3>Simptomatologia<\/h3>\n<p>Simptome generale:<\/p>\n<ul>\n<li>semne de paralizie fals\u0103 a formei periferice;<\/li>\n<li>sl\u0103biciune general\u0103 a corpului;<\/li>\n<li>procese atrofice \u00een conexiunile de \u021besut muscular;<\/li>\n<li>hipotonia grupurilor musculare ale extremit\u0103\u021bilor superioare \u0219i inferioare;<\/li>\n<li>dezvoltarea \u00een stadiile tardive ale tulbur\u0103rilor piramidale;<\/li>\n<li>lipsa sensibilit\u0103\u0163ii;<\/li>\n<li>fasciculul tremurat \u0219i spasmul.<\/li>\n<\/ul>\n<h3>Boala W\u00f6rding-Hoffmann\u00a0are trei forme:<\/h3>\n<p>1.Forma congenital\u0103 se manifest\u0103 \u00een primele \u0219ase luni de via\u021b\u0103 \u0219i se desf\u0103\u0219oar\u0103 \u00eentr-o stare malign\u0103.\u00a0Simptomatologia poate s\u0103 apar\u0103 \u00een timpul dezvolt\u0103rii intrauterine.\u00a0Astfel de copii din momentul na\u0219terii nu pot \u021bine capul \u00een mod independent \u0219i nu-l pot \u00eentoarce, li e dificil s\u0103 stea.\u00a0De asemenea, pentru ei e caracteristic\u0103 pozi\u0163ia de broasc\u0103 &#8211; picioarele sunt \u00eendoite \u015fi desf\u0103cute \u00een p\u0103r\u021bi.\u00a0O astfel de amiotrofie se dezvolt\u0103 conform unui tip ascendent: primele semne apar \u00een extremit\u0103\u021bile inferioare, apoi \u00een membrele superioare.\u00a0Mai mult, sunt implica\u021bi mu\u0219chii respiratori \u0219i conexiunile musculare ale laringelui.\u00a0Simptomatologia poate fi \u00eenso\u021bit\u0103 de tulbur\u0103ri mintale.<\/p>\n<p>2.Forma timpurie se dezvolt\u0103 p\u00e2n\u0103 la un an \u0219i jum\u0103tate, de regul\u0103, se \u00eent\u00e2mpl\u0103 dup\u0103 o boal\u0103 infec\u021bioas\u0103 suportat\u0103.\u00a0Copilului \u00eei vine greu s\u0103 se mi\u015fte, nu poate merge \u0219i nici \u015fedea.\u00a0Mai mult, sunt implica\u021bi \u00een proces \u015fi mu\u0219chii sistemului respirator, se dezvolt\u0103 pneumonia.<\/p>\n<p>3.Forma t\u00e2rzie se dezvolt\u0103 dup\u0103 un an \u0219i jum\u0103tate, p\u0103str\u00e2nd \u00een acela\u0219i timp capacitatea de a se deplasa p\u00e2n\u0103 la v\u00e2rsta de zece ani.<\/p>\n<h3>Amiotrofia de form\u0103 juvenil\u0103 dup\u0103 Kugelberg-Welander<\/h3>\n<p>Aceast\u0103 form\u0103 se manifest\u0103 de la 2 p\u00e2n\u0103 la 15 ani. Ini\u021bial sunt afectate conexiunile musculare proximale ale extremit\u0103\u021bilor inferioare \u0219i ale centurii pelvine,apoi \u00een acest proces se implic\u0103 \u0219i br\u00e2ul de um\u0103r.\u00a0Pentru aceast\u0103 form\u0103 de amiotrofie nu e caracteristic\u0103 deformarea sistemului osos, astfel, pacien\u021bii sunt capabili s\u0103 se deserveasc\u0103 singuri.<\/p>\n<h3>Forma bulbospinal\u0103 dup\u0103 Kennedy<\/h3>\n<p>E diagnosticat\u0103 exclusiv la b\u0103rba\u021bi dup\u0103 30 de ani.\u00a0Boala \u00eencepe cu procese amiotrofice \u00een conexiunile musculare ale membrelor inferioare.\u00a0Tulbur\u0103rile de form\u0103 bulbar\u0103 pot ap\u0103rea peste 10-20 ani dup\u0103 debut.<\/p>\n<p>\u00cen unele cazuri pacien\u021bii cu acest tip pot prezent\u0103 periodic tremur ale membrelor superioare \u0219i a capului.\u00a0De asemenea pot ap\u0103rea astfel de afec\u021biuni:<\/p>\n<ul>\n<li>atrofie testicular\u0103;<\/li>\n<li>libido slab pronun\u0163at;<\/li>\n<li>diabet zaharat \u0219i altele.<\/li>\n<\/ul>\n<h3>Amiotrofie de forma distal\u0103 dup\u0103 Duchenne-Aran<\/h3>\n<p>Aceast\u0103 form\u0103 poate fi mo\u0219tenit\u0103 at\u00e2t de tipul dominant, c\u00e2t \u0219i de cel recesiv.\u00a0Etapa ini\u021bial\u0103 e la v\u00e2rsta de 20, dar \u00een unele cazuri poate fi p\u00e2n\u0103 la 50 de ani.\u00a0Procesul de amiotrofie \u00eencepe de la membrele superioare, apoi trece pe zona um\u0103rului \u0219i antebra\u021bului.\u00a0Mai t\u00e2rziu, o astfel de stare este asociat\u0103 cu pareza trunchiului, cu articula\u021biile gambelor \u0219i a coapsele.<\/p>\n<h3>Amiotrofia spinal\u0103: diagnosticul<\/h3>\n<p>Atrofia muscular\u0103 spinal\u0103 este diagnosticat\u0103 \u00een func\u021bie de istoricul familiei, studiile privind starea neurologic\u0103 a pacientului, EFI, RMN din zona coloanei vertebrale, analiza ADN \u0219i studiile de biopsie ale sistemului muscular. Pentru a diferen\u021bia aceast\u0103 boal\u0103 de alte distrofii musculare, se recomand\u0103 efectuarea unui test de s\u00e2nge biochimic. Pentru a clarifica diagnosticul, este necesar s\u0103 se efectueze o biopsie a fibrelor musculare. Diagnosticul final va fi stabilit conform rezultatelor diagnosticului ADN \u0219i consilierea unui genetician.<\/p>\n<h3>Tratamentul<\/h3>\n<p>Pacientul cu aceast\u0103 boal\u0103 trebuie plasat \u00eentr-o institu\u021bie medical\u0103 pentru un diagnostic complex, deoarece starea general\u0103 \u0219i perturbarea activit\u0103\u021bii sistemului respirator se pot agrava. P\u00e2n\u0103 \u00een prezent nu exist\u0103 metode eficiente de tratare a acestei patologii. \u00cen majoritatea cazurilor, terapia trebuie s\u0103 vizeze normalizarea circula\u021biei s\u00e2ngelui, stimularea impulsurilor nervoase, precum \u0219i sus\u021binerea echilibrului energetic \u00een conexiunile de \u021besut muscular.<\/p>\n<h3>\u00cen acest scop sunt prescrise:<\/h3>\n<ul>\n<li>Sanguinarin\u0103;<\/li>\n<li>Neostigmina;<\/li>\n<li>Coenzima Q-10;<\/li>\n<li>Vitamine din grupa B;<\/li>\n<li>Piracetam \u0219.a..<\/li>\n<\/ul>\n<h3>Prognozare<\/h3>\n<p>Prezicerea dezvolt\u0103rii \u0219i tratamentul bolii depinde de tipul de amiotrofie a coloanei vertebrale.<\/p>\n","protected":false},"excerpt":{"rendered":"<p>Amiotrofiile spinale reprezint\u0103 un grup de afec\u0163iuni degenerative cu transmitere genetic\u0103 autozomal recesiv\u0103, care afecteaz\u0103 neuronii din m\u0103duva spin\u0103rii, adesea si pe cei din trunchiul cerebral, duc\u00e2nd la moartea acestora cu pierdere de mas\u0103 muscular\u0103 \u015fi sc\u0103dere de for\u0163\u0103. Severitatea maladiei este influen\u0163at\u0103 de v\u00e2rsta de debut a afec\u0163iunii: cu c\u00e2t boala debuteaz\u0103 mai precoce [&hellip;]<\/p>\n","protected":false},"author":28,"featured_media":0,"parent":52975,"menu_order":0,"comment_status":"closed","ping_status":"closed","template":"","meta":{"inline_featured_image":false,"footnotes":""},"class_list":["post-54109","page","type-page","status-publish"],"yoast_head":"<!-- This site is optimized with the Yoast SEO plugin v27.3 - https:\/\/yoast.com\/product\/yoast-seo-wordpress\/ -->\n<title>Amiotrofiile spinale<\/title>\n<meta name=\"description\" content=\"Amiotrofiile spinale reprezint\u0103 un grup de afec\u0163iuni degenerative cu transmitere genetic\u0103 autozomal recesiv\u0103, care afecteaz\u0103 neuronii din m\u0103duva spin\u0103rii, adesea si pe cei din trunchiul cerebral, duc\u00e2nd la moartea acestora cu pierdere de mas\u0103 muscular\u0103 \u015fi sc\u0103dere de for\u0163\u0103.\" \/>\n<meta name=\"robots\" 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