脊髓性肌萎缩症多学科诊疗应用进展

doi:10.12372/jcp.2025.25e0066

Abstract

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

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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Progress in multidisciplinary diagnosis and treatment of spinal muscular atrophy

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