Journal of Clinical Pediatrics >
Progress in multidisciplinary diagnosis and treatment of spinal muscular atrophy
Received date: 2025-01-22
Accepted date: 2025-02-12
Online published: 2025-02-27
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 . DOI: 10.12372/jcp.2025.25e0066
| [1] | Fang P, Li L, Zeng J, et al. Molecular characterization and copy number of SMN1, SMN2 and NAIP in Chinese patients with spinal muscular atrophy and unrelated healthy controls[J]. BMC Musculoskelet Disord, 2015, 16(1): 11. |
| [2] | Shaw M, Pelecanos AM, Mudge AM. Evaluation of internal medicine physician or multidisciplinary team comanagement of surgical patients and clinical outcomes: a systematic review and meta-analysis[J]. JAMA Netw Open, 2020, 3(5): e204088. |
| [3] | Thomas M, Thépot S, Galic N, et al. Diversifying mechanisms in the on-farm evolution of crop mixtures[J]. Mol Ecol, 2015, 24(12): 2937-2954. |
| [4] | 中国研究型医院学会罕见病分会, 中国罕见病联盟, 北京罕见病诊疗与保障学会, 等. 青少年成人脊髓性肌萎缩症临床诊疗指南[J]. 罕见病研究, 2023, 2(2): 231-255. |
| Rare Disease Society of Chinese Research Hospital Association, China Alliance for Rare Diseases, Beijing Society of Rare Disease Clinical Care and Accessibility, et al. Clinical Practice Guideline for Adolescent & Adult Patients with Spinal Muscular Atrophy[J]. Hanjianbing Yanjiu, 2023, 2(2): 231-255. | |
| [5] | Wang CH, Finkel RS, Bertini ES, et al. Consensus statement for standard of care in spinal muscular atrophy[J]. J Child Neurol, 2007, 22(8): 1027-1049. |
| [6] | Detering NT, Zambon A, Hensel N, et al. 264th ENMC International Workshop: Multi-system involvement in spinal muscular atrophy Hoofddorp, the Netherlands, November 19th - 21st 2021[J]. Neuromuscul Disord, 2022, 32(8): 697-705. |
| [7] | Bonanno S, Cavalcante P, Salvi E, et al. Identification of a cytokine profile in serum and cerebrospinal fluid of pediatric and adult spinal muscular atrophy patients and its modulation upon nusinersen treatment[J]. Front Cell Neurosci, 2022, 16: 982760. |
| [8] | 中国医师协会儿科医师分会, 中国医师协会儿科医师分会儿童呼吸学组. 脊髓性肌萎缩症呼吸管理专家共识(2022版)[J]. 中华实用儿科临床杂志, 2022, 37(6): 401-411. |
| Pediatrician Branch of Chinese Medical Doctor Association; Subspecialty Group of Respiratory Diseases, Pediatrician Branch of Chinese Medical Doctor Association. Consensus statement for standard of pulmonary management in spinal muscular atrophy (2022 version)[J]. Zhonghua Shiyong Erke Linchuang Zazhi, 2022, 37(6): 401-411. | |
| [9] | 北京医学会罕见病分会, 北京医学会医学遗传学分会, 北京医学会神经病学分会神经肌肉病学组, 等. 脊髓性肌萎缩症多学科管理专家共识[J]. 中华医学杂志, 2019, 99(19): 1460-1467. |
| Beijing Medical Association, Rare Diseases Branch, Medical Genetics Branch, Neurology Branch, Neuromuscular Disease Group, et al. Expert consensus on multidisciplinary management of spinal muscular atrophy[J]. Zhonghua Yixue Zazhi, 2019, 99(19): 1460-1467. | |
| [10] | Fauroux B, Griffon L, Amaddeo A, et al. Respiratory management of children with spinal muscular atrophy (SMA)[J]. Arch Pediatr, 2020, 27(7S): 7S29-7S34. |
| [11] | Finkel RS, Mercuri E, Meyer OH, et al. Diagnosis and management of spinal muscular atrophy: Part 2: Pulmonary and acute care; medications, supplements and immunizations; other organ systems; and ethics[J]. Neuromuscul Disord, 2018, 28(3): 197-207. |
| [12] | Xiao L, Chiang J, Castro-Codesal M, et al. Respiratory characteristics in children with spinal muscular atrophy type 1 receiving nusinersen[J]. Pediatr Pulmonol, 2023, 58(1): 161-170. |
| [13] | 杨琴, 鲍燕敏, 路新国, 等. 儿童神经肌肉疾病患者的睡眠呼吸障碍特征分析[J]. 中国当代儿科杂志, 2021, 23(2): 158-163. |
| YANG Qin, BAO Yanmin, LU Xinguo et al. Clinical features of sleep-disordered breathing in children with neuromuscular disease[J]. Zhongguo Dangdai Erke Zazhi, 2021, 23(2): 158-163. | |
| [14] | F?rster JG, Schlenzka D, ?sterman H, et al. Anaesthetic considerations in posterior instrumentation of scoliosis due to spinal muscular atrophy: Case series of 56 operated patients[J]. Acta Anaesthesiol Scand, 2022, 66(3): 345-353. |
| [15] | Gaume M, Saudeau E, Gomez-Garcia de la Banda M, et al. Minimally invasive fusionless surgery for scoliosis in spinal muscular atrophy: long-term follow-up results in a series of 59 patients[J]. J Pediatr Orthop, 2021, 41(9): 549-558. |
| [16] | 陈雅琪, 孙畅, 谭林娟, 等. 28例脊髓性肌萎缩症伴重度脊柱畸形患者后路矫形术的手术护理配合[J]. 中华骨与关节外科杂志, 2022, 15(11): 866-871. |
| Chen YQ, Sun C, Tan LJ, et al. Posterior orthopaedic surgery for spinal muscular atrophy combined with severe spinal deformity: nursing experiences of 28 cases[J]. Zhonghua Guyuguanjie Waike Zazhi, 2022, 15(11): 866-871. | |
| [17] | Wang L, Du Y, Huang N, et al. Clinical characteristics and anaesthetic management of severe scoliosis patients with spinal muscular atrophy: case series[J]. Ann Med Surg (Lond), 2024, 86(2): 643-649. |
| [18] | Billeci L, Tonacci A, Morales MA, et al. An alternative approach to home-based rehabilitation of children with spinal muscular atrophy[C]. 2022 IEEE International Conference on Pervasive Computing and Communications Workshops and other Affiliated Events (PerCom Workshops), Pisa, Italy, 2022. |
| [19] | 冷明月, 彭宏浩, 吴至凤. 脊髓性肌萎缩症家庭康复与护理的研究进展[J]. 中国当代儿科杂志, 2024, 26(4): 420-424. |
| Leng MY, Peng HH, Wu ZF. Recent research on home rehabilitation and nursing for spinal muscular atrophy[J]. Zhongguo Dangdai Erke Zazhi, 2024, 26(4): 420-424. | |
| [20] | Divito D, Konek S. Spinal Muscular Atrophy— Summary for Nutritional Care: The Consensus Statement for Standard of Care in Spinal Muscular Atrophy[J]. ICAN: Infant, Child, & Adolescent Nutrition 2, 2010, 2(6): 348-354. |
| [21] | 廖力慧, 陶秋吉, 甘靖. 关于脊髓性肌肉萎缩症患儿营养管理的探讨[J]. 四川医学, 2023, 44(12): 1319-1322. |
| Liao LH, Tao QJ, Gan J. Discussion on nutritional management of children with spinal muscular atrophy[J]. Sichuan Yixue, 2023, 44(12): 1319-1322. | |
| [22] | Silva FAR, Barbosa MA, Prudente COM, et al. Health literacy of people with spinal cord injury: a systematic review[J]. Spinal Cord, 2023, 61(8): 409-414. |
| [23] | Di Pede C, Agosto C, De Tommasi V, et al. Symptom management and psychological support for families are the cornerstones of end-of-life care for children with spinal muscular atrophy type 1[J]. Acta Paediatr, 2018, 107(1): 140-144. |
| [24] | Yao M, Ma Y, Qian R, et al. Quality of life of children with spinal muscular atrophy and their caregivers from the perspective of caregivers: a Chinese cross-sectional study[J]. Orphanet J Rare Dis, 2021, 16(1): 7. |
| [25] | Strauss KA, Farrar MA, Muntoni F, et al. Onasemnogene abeparvovec for presymptomatic infants with two copies of SMN2 at risk for spinal muscular atrophy type 1: the Phase III SPR1NT trial[J]. Nat Med, 2022, 28(7): 1381-1389. |
| [26] | Kraszewski JN, Kay DM, Stevens CF, et al. Pilot study of population-based newborn screening for spinal muscular atrophy in New York state[J]. Genet Med, 2018, 20(6): 608-613. |
| [27] | Hale K, Ojodu J, Singh S. Landscape of spinal muscular atrophy newborn screening in the United States: 2018-2021[J]. Int J Neonatal Screen, 2021, 7(3): 33. |
| [28] | Kimizu T, Ida S, Okamoto K, et al. Spinal muscular atrophy: diagnosis, incidence, and newborn screening in Japan[J]. Int J Neonatal Screen, 2021, 7(3): 45. |
| [29] | Kariyawasam DST, Russell JS, Wiley V, et al. The implementation of newborn screening for spinal muscular atrophy: the Australian experience[J]. Genet Med, 2020, 22(3): 557-565. |
| [30] | Boemer F, Caberg JH, Dideberg V, et al. Newborn screening for SMA in Southern Belgium[J]. Neuromuscul Disord, 2019, 29(5): 343-349. |
| [31] | Kariyawasam DS, D'Silva AM, Sampaio H, et al. Newborn screening for spinal muscular atrophy in Australia: a non-randomised cohort study[J]. Lancet Child Adolesc Health, 2023, 7(3): 159-170. |
| [32] | 季星, 吴士文. 《脊髓性肌萎缩症新生儿筛查专家共识(2023版)》解读[J]. 临床儿科杂志, 2023, 41(12): 942-945. |
| Ji X, Wu SW. Interpretation of expert consensus on newborn screening for spinal muscular atrophy (2023 edition)[J]. Linchuang Erke Zazhi, 2023, 41(12): 942-945. | |
| [33] | Zhang J, Wang Y, Ma D, et al. Carrier screening and prenatal diagnosis for spinal muscular atrophy in 13,069 Chinese pregnant women[J]. J Mol Diagn, 2020, 22(6): 817-822. |
| [34] | 徐艳华, 毛华庆, 徐益红, 等. 浙江省新生儿疾病筛查工作质量监测与评价[J]. 预防医学, 2022, 34(8): 848-851. |
| Xu YH, Mao HQ, Xu YH, et al. Quality monitoring and evaluation of neonatal disease screening in Zhejiang Province[J]. Yufang Yixue, 2022, 34(8): 848-851. |
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