Duchenne ve Becker Musküler Distrofi
Özet
Distrofinopatiler, distrofin genindeki mutasyonlar sonucu gelişen ve iskelet kası dejenerasyonuyla karakterize, farklı klinik şiddet gösteren ilerleyici nöromusküler bozukluklardır. Duchenne Musküler Distrofisi (DMD) en yaygın ve ağır seyreden form olup, distrofin proteininin tamamen yokluğuyla ilişkiliyken, Becker Musküler Distrofisi (BMD) kısmen işlevsel protein varlığı sayesinde daha hafif klinik bulgular sergiler. Hastalarda kas zayıflığına ek olarak kardiyak, solunumsal ve bilişsel tutulumlar görülebilmekte, tedavi planı ise multidisipliner yaklaşımlar ve güncel genetik tedavi seçenekleriyle yürütülmektedir.
Dystrophinopathies are progressive neuromuscular disorders characterized by skeletal muscle degeneration resulting from mutations in the dystrophin gene. Duchenne Muscular Dystrophy (DMD) represents the most severe and common form caused by a complete absence of dystrophin, while Becker Muscular Dystrophy (BMD) manifests with milder symptoms due to the presence of partially functional protein. Patients often experience not only muscular weakness but also cardiac, respiratory, and cognitive complications, requiring a multidisciplinary management approach and evolving genetic therapies.
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