Spinal Musküler Atrofi: Tanı, Tarama ve Tedavide Güncel Gelişmeler

Yıl 2023, Cilt: 5 Sayı: 2, 275 - 287, 26.08.2023

Zeliha Yücel , Emine Berrin Yüksel

Öz

Spinal musküler atrofi (SMA), kranial sinir motor çekirdekleri ve omurilikteki ön boynuz motor nöronların kaybının yol açtığı ilerleyici kas güçsüzlüğü ve atrofisi ile seyreden kalıtsal bir hastalıktır. Otozomal resesif geçiş gösterir ve Survival Motor Nöron 1 (SMN1, MIM *600354) genindeki mutasyonlar sonucu ortaya çıkar. Dünya genelinde SMA görülme sıklığı 10 000 canlı doğumda ~1-3, SMN1 gen mutasyonlarının taşıyıcı sıklığı ise ~1/50’dir. SMA, klinik şiddeti ve hastalık başlangıç yaşına göre beş ayrı fenotip olarak olarak sınıflandırılır. Temel klinik bulgu kas güçsüzlüğü ve atrofisidir. Ülkemizde Sağlık Bakanlığı verilerine göre yaklaşık 3000 SMA hastası izlenmektedir. SMA’nın kalıtımından sorumlu SMN1 geni, 5. kromozomun uzun kolunda, 5q13.2 bölgesinde yer almaktadır. Son on yılda, SMA tanı ve tedavisinde çığır açıcı gelişmeler yaşanmış, erken tanı ve tedavinin hastalık seyrini değiştirdiği izlenmiştir. Erken tanıya yönelik ülkemizde yenidoğan ve evlilik öncesi SMA tarama programları uygulanmaktadır. Günümüzde SMA tedavisinde birçok preklinik ve klinik çalışma halen devam etmekte ve klinik yararlanımı artırmaya yönelik kombine tedavi stratejileri denenmektedir.

Anahtar Kelimeler

Spinal musküler atrofi, SMN1 geni, yenidoğan taraması, taşıyıcı taraması, SMA tedavisi

Destekleyen Kurum

bulunmamaktadır

Proje Numarası

bulunmamaktadır

Teşekkür

bulunmamaktadır

Spinal Muscular Atrophy: Current Advances in Diagnosis, Screening and Treatment

Öz

Proje Numarası

bulunmamaktadır

Kaynakça

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