2020
DOI: 10.31067/0.2020.268
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Distrofinopati Hastalarının Demografik, Klinik ve Genetik Özellikleri: Tek Merkez Üçüncü Basamak Deneyimi

Abstract: ÖZET Amaç: Duchenne musküler distrofisi (DMD), X'e bağlı olarak kalıtılan bir musküler distrofidir. Alt ekstremite proksimal kaslarında başlayan güçsüzlük ile karekterizedir. Hayat kalitesinin yükseltilmesi ve sağ kalımın uzatılması açısından, öngörülen komplikasyonların tedavisi ve steroid tedavisi önemli olup, ailelere genetik danışmanlık verilmelidir. Bu çalışmadaki amacımız merkezimize başvuran hastalardaki klinik, labaratuvar, genetik spektrumu ortaya koymaktır. Hastalar ve Yöntem: Çalışmada, Ocak 2013-Oc… Show more

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“…In Organisation for Economic Cooperation and Development (OECD) countries, deaths due to diseases of the nervous system and sensory organs account for 5% of total deaths [7]. The prevalence of ALS in our country is reported to be between 3.7-7.3 per 100,000, while the prevalence of DMD is reported to be between 15.9-19.5 per 100,000 [8], [9]. The global prevalence of motor neuron diseases is reported to be 3.37 per 100,000, while in our country, it is reported as 3.6 [10].…”
Section: Introduction (Gi̇ri̇ş)mentioning
confidence: 90%
“…In Organisation for Economic Cooperation and Development (OECD) countries, deaths due to diseases of the nervous system and sensory organs account for 5% of total deaths [7]. The prevalence of ALS in our country is reported to be between 3.7-7.3 per 100,000, while the prevalence of DMD is reported to be between 15.9-19.5 per 100,000 [8], [9]. The global prevalence of motor neuron diseases is reported to be 3.37 per 100,000, while in our country, it is reported as 3.6 [10].…”
Section: Introduction (Gi̇ri̇ş)mentioning
confidence: 90%