Artrogripozis
Özet
Artrogripozis multipleks konjenita (AMK), intrauterin dönemde fetal hareketin azalmasına (akinezi) bağlı olarak gelişen ve en az iki vücut bölgesinde görülen ilerleyici olmayan konjenital eklem kontraktürlerini tanımlar. Hastalık, nörolojik, kas veya bağ dokusu kökenli olabildiği gibi genetik ve çevresel birçok faktörden etkilenen heterojen bir yapı sergiler. Tedavide temel hedef multidisipliner bir yaklaşımla yaşam kalitesini artırmak olup, erken dönemde başlatılan yoğun fizyoterapi, ortopedik girişimler ve düzenli takip süreci kritik öneme sahiptir. Spesifik bir tanıya ulaşılamayan durumlarda dahi bireyselleştirilmiş tedavi protokolleri, hastaların bağımsız bir yaşam sürmelerini desteklemek adına uygulanır.
Arthrogryposis multiplex congenita (AMC) is a clinical condition defined by non-progressive congenital contractures affecting at least two joints, typically resulting from reduced fetal movement (fetal akinesia) during development. This heterogeneous disorder originates from diverse factors, including neurological, muscular, or connective tissue issues, alongside genetic and environmental influences. Management relies on a multidisciplinary approach aimed at optimizing quality of life, where early intensive physical therapy, orthopedic interventions, and consistent monitoring play a decisive role. Even in cases lacking a specific diagnosis, personalized treatment protocols are utilized to support patients in achieving functional independence.
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