Kalıtsal Kas Hastalıklarında Yeni Tanı Testleri
Özet
Kalıtsal kas hastalıkları, iskelet sisteminin yapısal veya fonksiyonel bozukluklarıyla karakterize olan ve genellikle genetik geçiş gösteren nadir hastalık gruplarıdır. Tanı sürecinde klinik öykü ve fizik muayenenin yanı sıra kreatin kinaz seviyeleri, elektromiyografi (EMG), kas biyopsisi ve moleküler genetik testler kritik rol oynamaktadır. Günümüzde bu hastalıkların kesin bir tedavisi bulunmamakla birlikte, fizik tedavi ve destekleyici yaklaşımların yanı sıra bazı spesifik türlerde enzim replasman tedavileri uygulanmaktadır.
Hereditary muscle diseases are rare conditions characterized by structural or functional disorders of the skeletal system, typically following various genetic inheritance patterns. The diagnostic process relies on clinical history and physical examination, supported by laboratory markers like creatine kinase, electromyography (EMG), muscle biopsy, and molecular genetic testing. While a definitive cure is not yet available, management focuses on supportive care such as physical therapy, with enzyme replacement therapies used for specific metabolic myopathies.
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