{"id":3168,"date":"2025-10-06T05:52:40","date_gmt":"2025-10-06T05:52:40","guid":{"rendered":"https:\/\/genoks.com.tr\/docs\/duchenne-muscular-dystrophy-dmd-az\/"},"modified":"2026-05-02T05:05:26","modified_gmt":"2026-05-02T05:05:26","password":"","slug":"duchenne-muscular-dystrophy-dmd-az","status":"publish","type":"docs","link":"https:\/\/genoks.com.tr\/az\/docs\/duchenne-muscular-dystrophy-dmd-az\/","title":{"rendered":"Duchenne M\u00fcsk\u00fcler Distrofiyas\u0131 (DMD)"},"content":{"rendered":"

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Duchenne M\u00fcsk\u00fcler Distrofiyas\u0131 (DMD)<\/strong> X-d\u0259 ba\u011fl\u0131 resessiv proqressiv \u0259z\u0259l\u0259 x\u0259st\u0259liyidir v\u0259 DMD genind\u0259ki (Xp21.2, distrofin) mutasiyalardan qaynaqlan\u0131r. \u0130nsidans ~1\/3500-5000 o\u011flan do\u011fumu. Ba\u015flan\u011f\u0131c 2-5 ya\u015f (Gowers i\u015far\u0259si), ~12 ya\u015fa q\u0259d\u0259r ambulyasiya itkisi, kardiyomiyopati v\u0259 respirator z\u0259iflik. M\u00fcasir m\u00fcalic\u0259l\u0259r: kortikosteroidl\u0259r, ekson-atlama antisens oligon\u00fckleotidl\u0259ri (eteplirsen, casimersen), gen terapiyas\u0131 (delandistrogene moxeparvovec). Diaqnostika: y\u00fcks\u0259k CK + DMD MLPA + sekvenslama.<\/p>\n

<\/p>\n

Duchenne M\u00fcsk\u00fcler Distrofi DMD Nedir ?<\/strong><\/p>\n

Duchenne Musk\u00fcler Distrofi (DMD), genetik bir bozukluk olan ve kaslar\u0131n zay\u0131flamas\u0131na ve atrofisine yol a\u00e7an ilerleyici bir hastal\u0131kt\u0131r. Bu hastal\u0131k, X kromozomu \u00fczerinde bulunan DMD genindeki bir mutasyon sonucu olu\u015fur. DMD geni, v\u00fccudumuzdaki kas h\u00fccrelerinde bulunan distrofin proteininin yap\u0131m\u0131 i\u00e7in gereklidir.<\/p>\n

Distrofin proteininin yoklu\u011fu veya eksikli\u011fi, kas h\u00fccrelerinin zarar g\u00f6rmesine ve kas dokusunun zamanla kaybedilmesine neden olur. Bu durum, zay\u0131f kas tonusu, g\u00fc\u00e7s\u00fczl\u00fck ve motor i\u015flev kayb\u0131 ile sonu\u00e7lan\u0131r. DMD, tipik olarak 3 ila 5 ya\u015flar\u0131 aras\u0131nda ortaya \u00e7\u0131kar ve erkek \u00e7ocuklar\u0131nda daha yayg\u0131nd\u0131r.<\/p>\n

DMD, y\u00fcr\u00fcme g\u00fc\u00e7l\u00fc\u011f\u00fc, d\u00fc\u015f\u00fck kas tonusu, s\u0131rtta kamburluk, kalp ve solunum kaslar\u0131n\u0131n zay\u0131fl\u0131\u011f\u0131 gibi semptomlarla karakterizedir. Hastal\u0131k ilerledik\u00e7e, kaslar giderek daha fazla etkilenir ve kas atrofisi artar, yutma ve solunum zorlu\u011fu da ortaya \u00e7\u0131kabilir.<\/p>\n

DMD’nin \u015fu anda kesin bir tedavisi yoktur, ancak semptomlar\u0131 hafifletmek i\u00e7in tedavi se\u00e7enekleri mevcuttur. Fizyoterapi, solunum terapisi, steroidler ve di\u011fer ila\u00e7lar, semptomlar\u0131 kontrol etmek ve ya\u015fam kalitesini art\u0131rmak i\u00e7in kullan\u0131l\u0131r.<\/p>\n\n\n\n\n\n\n\n\n
Gen:<\/strong><\/strong><\/td>\nDMD<\/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":"

Duchenne M\u00fcsk\u00fcler Distrofiyas\u0131 (DMD) X-d\u0259 ba\u011fl\u0131 resessiv proqressiv \u0259z\u0259l\u0259 x\u0259st\u0259liyidir v\u0259 DMD genind\u0259ki (Xp21.2, distrofin) mutasiyalardan qaynaqlan\u0131r. \u0130nsidans ~1\/3500-5000 o\u011flan do\u011fumu. Ba\u015flan\u011f\u0131c 2-5 ya\u015f (Gowers i\u015far\u0259si), ~12 ya\u015fa q\u0259d\u0259r ambulyasiya itkisi, kardiyomiyopati v\u0259 respirator z\u0259iflik. M\u00fcasir m\u00fcalic\u0259l\u0259r: kortikosteroidl\u0259r, ekson-atlama antisens [\u2026]<\/span><\/p>\n","protected":false},"author":1,"featured_media":0,"comment_status":"open","ping_status":"closed","template":"","meta":{"footnotes":""},"doc_category":[205],"doc_tag":[96,98,115,130],"class_list":["post-3168","docs","type-docs","status-publish","hentry","doc_category-genoks-gdhm-genetik-testler-az","doc_tag-dmd","doc_tag-duchenne-muskuler-distrofi","doc_tag-mlpa","doc_tag-tek-gen-hastaligi"],"aioseo_notices":[],"year_month":"2026-05","word_count":398,"total_views":0,"reactions":{"happy":0,"normal":0,"sad":0},"author_info":{"name":"admin","author_nicename":"admin","author_url":"https:\/\/genoks.com.tr\/az\/author\/admin\/"},"doc_category_info":[{"term_name":"Genoks GDHM Genetik Testl\u0259r","term_url":"https:\/\/genoks.com.tr\/az\/docs-category\/genoks-gdhm-genetik-testler-az\/"}],"doc_tag_info":[{"term_name":"DMD","term_url":"https:\/\/genoks.com.tr\/docs-tag\/dmd\/"},{"term_name":"Duchenne M\u00fcsk\u00fcler Distrofi","term_url":"https:\/\/genoks.com.tr\/docs-tag\/duchenne-muskuler-distrofi\/"},{"term_name":"MLPA","term_url":"https:\/\/genoks.com.tr\/docs-tag\/mlpa\/"},{"term_name":"Tek Gen Hastal\u0131\u011f\u0131","term_url":"https:\/\/genoks.com.tr\/docs-tag\/tek-gen-hastaligi\/"}],"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