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脊髓性肌萎缩是一组常染色体隐性(AR)遗传的进行性并通常为对称性肌无力与萎缩的疾病。5q型常见,由5q13上SMN1基因缺失(95%的病例)或突变(约5%的病例)引起,分为4型。18个月内起病的Ⅰ型与Ⅱ型往往因呼吸吞咽不良、不能站坐走与继发骨折等而预后严重。非-5q型为一组异源性运动神经元病,临床表现与前者有所不同。5q型的诊断根据病史、血清肌酶、肌电图、肌活检而确诊靠基因检查,如纯合子缺失用PCR-SSCP等检测、点突变用点突变序列检测。胎儿细胞基因检测可提供产前诊断。治疗是多方面的。对症治疗与支持治疗要求有关各科专家积极合作。随着医疗技术的进步,患者的寿命与活动状况均有改进。分子治疗已初露曙光。
Spinal muscular atrophy is a group of autosomal recessive (AR) genetic progressive and usually symmetrical myasthenia and atrophy of the disease. Type 5q is common and is caused by deletion of the SMN1 gene (95% of cases) or mutation (about 5% of cases) on 5q13, divided into 4 types. Within 18 months of onset of type Ⅰ and type Ⅱ are often poorly swallowed by breathing, can not sit and secondary fracture and other serious prognosis. Non--5q type is a group of heterogeneous motor neuron disease, the clinical manifestations are different with the former. 5q diagnosis based on medical history, serum muscle enzymes, EMG, muscle biopsy and confirmed by genetic tests, such as homozygous deletion PCR-SSCP and other tests, point mutations detected with point mutations. Fetal cell genetic testing can provide prenatal diagnosis. Treatment is multifaceted. Symptomatic treatment and supportive treatment requires active cooperation of all relevant experts. As medical technology advances, patients’ life expectancy and activity have improved. Molecular therapy has dawn.