脊髓性肌萎缩症多学科诊疗应用进展

doi:10.12372/jcp.2025.25e0066

摘要/Abstract

摘要：

脊髓性肌萎缩症（SMA）是一种脊髓前角运动神经元退化引起的进行性、对称性肢体近端和躯干肌肉无力、萎缩的常染色体隐性遗传的罕见病。SMA患儿常伴发脊柱侧凸、关节挛缩、呼吸功能不全、骨质疏松、张口受限、营养不良等多系统损害，疾病治疗需要多学科共同参与。多学科诊疗在SMA诊疗中能有效缩短诊断时耗、提高患者生存质量。本研究通过文献回顾，梳理近年来国内外SMA多学科诊疗在疾病诊治、三级防控的开展情况，为未来完善SMA多学科诊疗提供研究依据。

关键词: 脊髓性肌萎缩症, 罕见病, 多学科诊疗

Abstract:

Spinal muscular atrophy (SMA) is a rare autosomal recessive disease of progressive, symmetrical proximal limb and trunk muscle weakness and atrophy caused by degeneration of motor neurons in the anterior horn of the spinal cord. SMA patients are often accompanied by scoliosis, joint contracture, respiratory insufficiency, osteoporosis, restricted mouth opening, malnutrition and other damage symptoms involving multiple systems, and the treatment of the disease requires multidisciplinary intervention. Multidisciplinary diagnosis and treatment of SMA can effectively shorten the diagnostic time, improve the life quality of patients. This study, through a literature review, sorts out the development of multi-disciplinary diagnosis and treatment of SMA in disease diagnosis and treatment, and the implementation of three-level prevention and control at home and abroad in recent years, providing research basis for the future improvement of multi-disciplinary diagnosis and treatment of SMA.

Key words: spinal muscular atrophy, rare disease, multi-disciplinary team

王帆, 马飞, 戴文静, 肖冰, 潘晨麟. 脊髓性肌萎缩症多学科诊疗应用进展[J]. 临床儿科杂志, 2025, 43(3): 233-236.

WANG Fan, MA Fei, DAI Wenjing, XIAO Bing, PAN Chenlin. Progress in multidisciplinary diagnosis and treatment of spinal muscular atrophy[J]. Journal of Clinical Pediatrics, 2025, 43(3): 233-236.

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