دیستروفی عضلانی دوشن در خراسان شمالی: مطالعه کیس سری

دیستروفی عضلانی دوشن در خراسان شمالی: مطالعه کیس سری

کد: G-1009

نویسندگان: Meisam Babaei © ℗, Fatemeh Arab, PhD, Salman Baratzadeh, MD, Mahnaz Banaei, Bsc

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خلاصه مقاله

Background: Duchenne muscular dystrophy (DMD) is the most common muscular dystrophy in children that usually presents in early childhood with delayed motor milestones, proximal weakness and hypercikemia. DMD is rapidly progressive, with affected children being wheelchair bound approximately by age 12. In this study we aimed to investigate about prevalence, epidemiology, and genetic of patients that refer to clinic for genetic consult in recent five years. Material and Methods: this search was conducted in data registry for patients who referred by physician with diagnosis of Duchenne (DMD) from 1396-1401. Between 2730 files, we received 28 documents, with this diagnosis; 13 files were excluded because of other diagnosis, and in 15 remaining files two one’s excluded because the genetic test was not done. Finally, 13 patients entered for analysis. Because the majority of pathogenic variants involve deletions/duplications, at first MLPA test was done, and if MLPA was negative at second step, the patients were referred for whole exome sequencing (WES). Results: mean age of the patients at the time of diagnosis was 5/5 years (3-10 years). All of them had previous history of motor delay. None of them have cardiac involvement. All of 13 affected patients undergone MLPA test. This test was conclusive in 11/13 patients with deletion in 10, and duplication in one patient. Of the remaining two patients, diagnosis stablished by WES in one patient with pathogenic variant in exon 70, and the WES was not done for the other patient. Conclusion: MLPA test was conclusive in 11/13 (85%) that was higher than percentages that mentioned on the texts, probably because of small sample size. Muscle biopsy was not done for none of the patients; probably because of invasive procedure and high cost of this confirmatory investigation. In this study, carrier detection test was done only for two patients maybe because of patients’ compliance, it’s cost and inadequate education. Key words: Duchenne muscular dystrophy, North Khorasan

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