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首页> 外文期刊>Egyptian Journal of Medical Human Genetics >Clinico-epidemiologic characteristics of spinal muscular atrophy among Egyptians
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Clinico-epidemiologic characteristics of spinal muscular atrophy among Egyptians

机译：埃及人脊髓性肌萎缩症的临床流行病学特征

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Spinal muscular atrophy (SMA) is characterized by progressive hypotonia and muscular weakness because of progressive degeneration of alpha motor neuron from anterior horn cells in the spinal cord. It is inherited by an autosomal recessive pattern. The precise frequency of SMA in Egypt has not been determined. We tried to estimate the frequency, clinical and molecular characteristics of SMA in Egypt. The study included all patients with SMA attended the Pediatric Hospital, Ain-Shams University during the period (year 1966–2009). The study included 117 patients with SMA out of 660,280 patients attending the Pediatric Hospital. Patients selection was based on clinical examination, CPK, EMG, nerve conduction velocity, histopathology and molecular diagnosis. Frequency of SMA was 17.7/100,000, which is considered high. Type I was the commonest type (60.6%), followed by type II (26.79%), and type III (8.8%). Consanguinity was reported in 45.5 and family history in 47.8% of patients. Molecular study was done and 54.5% of patients (types I and II) have homozygous deletion of exon 7, 36.3% of whom had also homozygous deletion of exon 8 of SMN1 gene which is considered lower than that reported in other countries. SMA is more prevalent in Egypt than in many other countries. Forty-five percent of patients were chromosome 5-unlinked. We should continue to search for other mutation in Egypt to facilitate detection of carriers and prenatal diagnosis.
机译：脊髓性肌萎缩症（SMA）的特征是进行性肌张力低下和肌无力，因为脊髓中前角细胞中的α运动神经元逐渐退化。它是由常染色体隐性遗传的。埃及SMA的确切频率尚未确定。我们试图估计埃及SMA的频率，临床和分子特征。该研究纳入了在此期间（1966年至2009年）在爱因沙姆大学儿科医院就诊的所有SMA患者。该研究包括在儿科医院就诊的660,280例患者中的117例SMA患者。患者的选择基于临床检查，CPK，EMG，神经传导速度，组织病理学和分子诊断。 SMA的发生率为17.7 / 100,000，这被认为很高。 I型是最常见的类型（60.6％），其次是II型（26.79％）和III型（8.8％）。据报道血缘关系为45.5，家族史为47.8％。进行了分子研究，有54.5％的患者（I型和II型）具有7号外显子纯合缺失，其中36.3％的患者SMN1基因的8号外显子纯合缺失，这被认为低于其他国家的报道。 SMA在埃及比许多其他国家更普遍。 45％的患者是5号染色体未连锁的。我们应该继续在埃及寻找其他突变，以方便携带者的发现和产前诊断。

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