Limb-Girdle Musküler Distrofiler
Özet
Limb-Girdle Musküler Distrofiler (LGMD), omuz ve pelvik kuşak kaslarında ilerleyici güçsüzlük ve motor fonksiyon kaybıyla karakterize, oldukça heterojen kalıtsal kas hastalıkları grubudur. Genetik mutasyonlar nedeniyle ortaya çıkan bu hastalıklar, erken çocukluktan erişkinliğe kadar geniş bir yaş aralığında belirti verebilmekte ve sıklıkla kalp ve solunum sistemi tutulumuyla seyretmektedir. Yeni ENMC sınıflandırmasına göre LGMD’ler, etkilenen gen ve protein bazlı olarak yeniden gruplandırılmış, tanı kriterleri güncellenmiştir. Günümüzde kesin bir tedavisi bulunmayan bu hastalıkların yönetiminde, multidisipliner yaklaşımlarla destekleyici tedaviler ve komplikasyonların önlenmesi büyük önem taşımaktadır.
Limb-Girdle Muscular Dystrophies (LGMD) represent a highly heterogeneous group of hereditary muscle disorders characterized by progressive weakness in the shoulder and pelvic girdle muscles, often leading to loss of motor function. These genetically diverse conditions, which can manifest from early childhood to adulthood, are frequently accompanied by cardiac and respiratory muscle involvement. According to the updated ENMC classification, LGMDs are regrouped based on specific genetic and protein-level mutations, with revised diagnostic criteria for improved clinical identification. Although there is currently no definitive cure, management focuses on multidisciplinary supportive care and the prevention of secondary complications to improve the patient's quality of life.
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