{"id":3173,"date":"2025-10-06T05:52:40","date_gmt":"2025-10-06T05:52:40","guid":{"rendered":"https:\/\/genoks.com.tr\/docs\/what-is-sma-en\/"},"modified":"2026-05-02T05:05:26","modified_gmt":"2026-05-02T05:05:26","password":"","slug":"what-is-sma-en","status":"publish","type":"docs","link":"https:\/\/genoks.com.tr\/en\/docs\/what-is-sma-en\/","title":{"rendered":"What is SMA (Spinal Muscular Atrophy)?"},"content":{"rendered":"

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Spinal Muscular Atrophy (SMA)<\/strong> is an autosomal recessive motor-neuron disease caused by SMN1 gene loss; clinical severity is modulated by SMN2 copy number. Incidence ~1\/10,000 newborns; carrier frequency ~1\/40-50. Modern treatments transformed prognosis: nusinersen (intrathecal ASO), onasemnogene abeparvovec (gene therapy, <2y), risdiplam (oral splicing modulator). Earlier (presymptomatic) treatment yields best outcomes \u2014 newborn screening included in many programs. Diagnosis: SMN1 MLPA + SMN2 copy number.<\/p>\n

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Spinal M\u00fcsk\u00fcler Atrofi (SMA) Nedir? <\/strong><\/p>\n

Spinal M\u00fcsk\u00fcler Atrofi (SMA), SMN1 (Survival Motor Neuron 1) genindeki bir mutasyon nedeniyle ortaya \u00e7\u0131kan genetik bir bozukluktur. SMN1 geni, motor n\u00f6ronlar\u0131n sa\u011fl\u0131kl\u0131 bir \u015fekilde \u00e7al\u0131\u015fmas\u0131 i\u00e7in gerekli olan bir protein olan SMN (Survival Motor Neuron) proteininin yap\u0131m\u0131ndan sorumludur.<\/p>\n

Normalde, SMN proteininin \u00fcretimi, bir yedekleyici gen olan SMN2 taraf\u0131ndan da sa\u011flan\u0131r. Ancak SMN2 geni, SMN1 geninden farkl\u0131 olarak, fonksiyonel SMN proteininin daha az miktar\u0131n\u0131 \u00fcretir ve bu nedenle SMN1 genindeki bir mutasyon SMN proteininin d\u00fczg\u00fcn \u00fcretimini engellerse, SMA semptomlar\u0131 ortaya \u00e7\u0131kar.<\/p>\n

\"Spinal

Spinal M\u00fcsk\u00fcler Atrofi (SMA)<\/p><\/div>\n

SMA hastalar\u0131nda hastal\u0131\u011f\u0131n \u015fiddeti farkl\u0131l\u0131k g\u00f6stermektedir. SMA’da hastal\u0131\u011f\u0131n \u015fiddeti, hastan\u0131n sahip oldu\u011fu SMN2 geni kopya say\u0131s\u0131na ba\u011fl\u0131d\u0131r. Dolay\u0131s\u0131yla SMN2 kopya say\u0131s\u0131 artt\u0131k\u00e7a hastal\u0131\u011f\u0131n \u015fiddetinin azalmas\u0131 beklenmektedir.<\/p>\n

Son y\u0131llarda, FDA onayl\u0131 iki gen terapisi, SMA tedavisinde \u00f6nemli bir ilerleme kaydetmi\u015ftir. Bu tedaviler, SMN proteininin yap\u0131m\u0131n\u0131 art\u0131rmak i\u00e7in tasarlanm\u0131\u015ft\u0131r. SMN1 genine d\u0131\u015far\u0131dan sa\u011flanan i\u015flevsel bir kopya veya SMN2 geninin SMN1 genine daha fazla i\u015flevsel kopya \u00fcretmesini sa\u011flayan tedaviler, SMA hastalar\u0131n\u0131n ya\u015fam kalitesini ve ya\u015fam s\u00fcresini art\u0131rmada umut verici sonu\u00e7lar vermektedir.<\/p>\n\n\n\n\n\n\n\n\n
Gen:<\/strong><\/strong><\/td>\nSMN1 | SMN2<\/td>\n<\/tr>\n
Y\u00f6ntem :<\/strong><\/td>\nMLPA<\/td>\n<\/tr>\n
Raporlama S\u00fcresi :<\/strong><\/td>\n4 Hafta<\/td>\n<\/tr>\n
Prenatal\/ Postnatal:<\/strong><\/strong><\/td>\nPostnatal<\/td>\n<\/tr>\n
Gerekli Numune<\/strong>:<\/td>\nEDTA’l\u0131 Kan (2-4 ml)<\/td>\n<\/tr>\n
Saklama \/ Ta\u015f\u0131ma S\u0131cakl\u0131\u011f\u0131:<\/strong><\/td>\n+ 4C\u00b0\/ + 24C\u00b0<\/td>\n<\/tr>\n<\/tbody>\n<\/table>\n

T\u00fcm genetik testlerimiz “Hasta Onam Formu”<\/strong> ve “KVKK Formu”<\/strong>nun imzalanmas\u0131n\u0131n ard\u0131ndan \u00e7al\u0131\u015f\u0131lmaya ba\u015flan\u0131r.<\/p>\n

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Detayl\u0131 Bilgi Almak \u0130\u00e7in Bize Mesaj Atabilirsiniz.<\/strong><\/p>\n\n\n\n
[contact-form-7 id=”710″ title=”genetik ba\u015fvuru”]<\/td>\n<\/tr>\n<\/tbody>\n<\/table>\n

Genoks Genetik Hastal\u0131klar De\u011ferlendirme Merkezi T.C. Sa\u011fl\u0131k Bankanl\u0131\u011f\u0131nca denetlenen ve GHDM-SM\/06.15\/01 ruhsat numaras\u0131 ile hizmet veren sa\u011fl\u0131k kurulu\u015fudur. genoks.com.tr web sayfas\u0131nda bulunan bilgiler, genetik de\u011ferlendirme ve\/veya tan\u0131-te\u015fhis ama\u00e7l\u0131 kullan\u0131lmamal\u0131d\u0131r. T\u00fcm i\u00e7erikler bilgilendirme ama\u00e7l\u0131d\u0131r.<\/p>\n","protected":false},"excerpt":{"rendered":"

Spinal Muscular Atrophy (SMA) is an autosomal recessive motor-neuron disease caused by SMN1 gene loss; clinical severity is modulated by SMN2 copy number. Incidence ~1\/10,000 newborns; carrier frequency ~1\/40-50. Modern treatments transformed prognosis: nusinersen (intrathecal ASO), onasemnogene abeparvovec (gene therapy, [\u2026]<\/span><\/p>\n","protected":false},"author":1,"featured_media":0,"comment_status":"closed","ping_status":"closed","template":"","meta":{"footnotes":""},"doc_category":[204],"doc_tag":[124,125,126,127],"class_list":["post-3173","docs","type-docs","status-publish","hentry","doc_category-genoks-gdhm-genetic-tests","doc_tag-sma","doc_tag-smn1","doc_tag-smn2","doc_tag-spinal-muskuler-atrofi"],"aioseo_notices":[],"year_month":"2026-05","word_count":415,"total_views":0,"reactions":{"happy":0,"normal":0,"sad":0},"author_info":{"name":"admin","author_nicename":"admin","author_url":"https:\/\/genoks.com.tr\/en\/author\/admin\/"},"doc_category_info":[{"term_name":"Genoks GDHM Genetic Tests","term_url":"https:\/\/genoks.com.tr\/en\/docs-category\/genoks-gdhm-genetic-tests\/"}],"doc_tag_info":[{"term_name":"SMA","term_url":"https:\/\/genoks.com.tr\/docs-tag\/sma\/"},{"term_name":"SMN1","term_url":"https:\/\/genoks.com.tr\/docs-tag\/smn1\/"},{"term_name":"SMN2","term_url":"https:\/\/genoks.com.tr\/docs-tag\/smn2\/"},{"term_name":"Spinal M\u00fcsk\u00fcler Atrofi","term_url":"https:\/\/genoks.com.tr\/docs-tag\/spinal-muskuler-atrofi\/"}],"aioseo_head":"\n\t\t\n\t\n\t\n\t\n\t\n\t\n\t\t\n\t\t\n\t\t\n\t\t\n\t\t\n\t\t\n\t\t\n\t\t\n\t\t\n\t\t\n\t\t\n\t\t\n\t\t\n\t\t\n\t\t\n\t\t\n\t\t\n\t\t