DUCHENE MUSCULAR DISORDER
Abstract
Duchenne muscular dystrophy (DMD) merupakan suatu penyakit X-linked resesif, salah satu tipe muskular dystrophy yang paling sering terjadi pada anak-anak, progresif cepat dystrophy otot, bersifat herediter dan diturunkan melalui X-linked resesif sehingga hanya mengenai pria, sedangkan perempuan sebagai karier.
Sekitar 74%-80% onset DMD terjadi sebelum usia 4 tahun. Namun sebagian besar kasus terjadi pada usia 5-6 tahun. Gejala klinis yang khas pada pasien DMD yaitu kelemahan otot-otot proksimal, calf hypertrophy dan Gower’s Sign.1 Kematian biasanya terjadi akibat insufisiensi respiratori kronis dan atau gagal jantung.
Penatalaksanaannya dapat berupa medikamentosa, nutrisional, rehabilitasi medik dan tindakan pembedahan. Peran rehabilitasi medik penting untuk mengurangi progresifitas penurunan fungsi otot dan kemampuan fungsional yang secara sekunder terjadi akibat adanya penurunan aktivitas fisik pada penderita DMD, meminimalkan problem kontraktur, komplikasi kardiorespirasi dan meningkatkan kapasitas fisik.
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