PDF(Sci-hub)
Abstract：
Spinal muscular atrophy (SMA), an autosomal recessive disease, is characterized by the selective loss of spinal motor neurons due to reduced levels of the survival motor neuron (SMN) protein. The clinical symptoms of SMA are progressive proximal muscle weakness and paralysis. Here we describe a 20-year-old Turkmenistan male with SMA who presented with uncommon pathological reflexes and asymmetric onset of weakness. The diagnosis after genetic analysis revealed a homozygous deletion of SMN1 exons seven and eight. The copies of SMN2 exon seven were normal. Although pyramidal signs are not a common symptom of SMA, they could not be used to exclude the diagnosis of SMA in a patient with neuromuscular degenerative symptoms. Therefore, an additional attention is warranted to SMA patients with pathological reflexes.
摘要：
脊髓性肌萎缩症(SMA),常染色体隐性疾病,其特征在于,由于存活运动神经元(SMN)蛋白的水平降低,脊髓运动神经元的选择性损失。SMA的临床症状是进行性近端肌无力和瘫痪。在这里，我们描述了一名20岁的土库曼斯坦男性，患有SMA，表现出罕见的病理反射和不对称的虚弱发作。遗传分析后的诊断显示SMN1外显子7和8的纯合缺失。SMN2第七外显子的拷贝是正常的。虽然锥体体征不是SMA的常见症状，它们不能用于排除有神经肌肉退行性症状的患者的SMA诊断.因此,对于有病理反射的SMA患者,需要额外的关注.
