Duchenne型肌营养不良（不能独走期）家庭照护专家共识

doi:10.12372/jcp.2025.24e1209

摘要/Abstract

摘要：

Duchenne型肌营养不良（DMD）是一种常见的X连锁隐性遗传致死性神经肌肉病。近年来基因相关治疗药物相继进入临床，全病程照护管理对提高患者生活质量和延长患者生命至关重要。为此，本共识通过系统查阅文献、专家论证、结合临床，最终形成对DMD不能独走期患者呼吸、心脏、康复、骨骼、营养、消化、皮肤、认知及心理等8个方面家庭照护的专家意见和建议，为DMD不能独走期患者的家庭照护提供指导与参考。

关键词: Duchenne型肌营养不良, 家庭照护, 专家共识

Abstract:

Duchenne muscular dystrophy (DMD) is a severe X-linked recessive neuromuscular disorder characterized by progressive muscle weakness and eventual fatality. In recent years, more and more gene therapies have emerged, and comprehensive care throughout the disease course remains crucial for maximizing patient’s survival and quality of life. This consensus, developed through literature review, expert consultations, and clinical experience, provides guidance for managing following aspects of care in non-ambulatory DMD patients, including respiratory, cardiac, rehabilitation, skeletal, nutritional, digestive, dermatological, cognitive, and psychological care. This aims to provide a scientific and practical support for families caring for non-ambulatory DMD patients.

Key words: Duchenne muscular dystrophy, home care, expert consensus

中国研究型医院学会神经科学专业委员会. Duchenne型肌营养不良（不能独走期）家庭照护专家共识[J]. 临床儿科杂志, 2025, 43(1): 1-7.

Society for Neuroscience and Neurology, Chinese Research Hospital Association, SNN/CRHA. Expert consensus on family care for Duchenne muscular dystrophy (non-ambulatory stage)[J]. Journal of Clinical Pediatrics, 2025, 43(1): 1-7.

参考文献 27

[1]	Crisafulli S, Sultana J, Fontana A, et al. Global epidemiology of Duchenne muscular dystrophy: an updated systematic review and meta-analysis[J]. Orphanet J Rare Dis, 2020, 15(1): 141. doi: 10.1186/s13023-020-01430-8 pmid: 32503598
[2]	Salari N, Fatahi B, Valipour E, et al. Global prevalence of Duchenne and Becker muscular dystrophy: a systematic review and meta-analysis[J]. J Orthop Surg Res, 2022, 17(1): 96. doi: 10.1186/s13018-022-02996-8 pmid: 35168641
[3]	Ryder S, Leadley RM, Armstrong N, et al. The burden, epidemiology, costs and treatment for Duchenne muscular dystrophy: an evidence review[J]. Orphanet J Rare Dis, 2017, 12(1): 79. doi: 10.1186/s13023-017-0631-3 pmid: 28446219
[4]	Landfeldt E, Edström J, Buccella F, et al. Duchenne muscular dystrophy and caregiver burden: a systematic review[J]. Dev Med Child Neurol, 2018, 60(10): 987-996. doi: 10.1111/dmcn.13934 pmid: 29904912
[5]	北京医学会罕见病分会, 北京医学会神经内科分会神经肌肉病学组, 中国肌营养不良协作组. Duchenne型肌营养不良多学科管理专家共识[J]. 中华医学杂志, 2018, 98(35): 2803-2814.
	Neurological Rare Disease Branch of Beijing Medical Association, Neuromuscular Disease Group of Neurology Branch of Beijing Medical Association, Chinese Muscular Dystrophy Collaborative Group. Expert consensus on multidisciplinary management of Duchenne muscular dystrophy[J]. Zhongluca Yixue Zazhi, 2018, 98(35): 2803-2814.
[6]	Camela F, Gallucci M, Ricci G. Cough and airway clearance in Duchenne muscular dystrophy[J]. Paediatr Respir Rev, 2019, 31: 35-39. doi: S1526-0542(18)30083-6 pmid: 30553655
[7]	Birnkrant DJ, Bushby K, Bann CM, et al. Diagnosis and management of Duchenne muscular dystrophy, part 2: respiratory, cardiac, bone health, and orthopaedic management[J]. Lancet Neurol, 2018, 17(4): 347-361. doi: S1474-4422(18)30025-5 pmid: 29395990
[8]	杨莉娜. 呼吸训练器对机械通气患者活动性咳嗽所致气道压力的缓解作用[J]. 医学理论与实践, 2023, 36(23): 4089-4091.
	Yang L. The alleviating effect of respiratory trainers on airway pressure caused by active cough in patients with mechanical ventilation[J]. Yixue Lilun Yu Shijiang, 2023, 36(23): 4089-4091.
[9]	石娟, 陈超杰, 肖娜, 等. 溯源解决模式在无创通气患者鼻面部压疮预防中的应用[J]. 临床护理杂志, 2018, 17(2): 73-75.
	Shi J, Chen C, Xiao N, et al. Application of the traceability resolution model in the prevention of nasal and facial pressure sores in patients with non-invasive ventilation[J]. Linchuang Huli Zazhi, 2018, 17(2): 73-75.
[10]	中华医学会呼吸病学分会睡眠呼吸障碍学组. 家庭无创正压通气临床应用技术专家共识[J]. 中华结核和呼吸杂志, 2017, 40(7): 481-493.
	Sleep-Related Breathing Disorders Group, Respiratory Disease Branch, Chinese Medical Association. Expert consensus on the clinical application technology of home non-invasive positive pressure ventilation[J]. Zhonghua Jiehe He Huxi Zazhi, 2017, 40(7): 481-493.
[11]	Cho HE, Byun J, Choi WA, et al. Analysis of pneumothorax in noninvasive ventilator users with duchenne muscular dystrophy[J]. Chest, 2021, 159(4): 1540-1547. doi: 10.1016/j.chest.2020.09.086 pmid: 32956714
[12]	张健, 耿月婷. 气囊压力表联合呼吸机用于人工气道监测及护理策略探析[J]. 智慧健康, 2022, 8(26): 243-246.
	Zhang J, Geng Y. Analysis on the application of airbag pressure gauge combined with ventilator in artificial airway monitoring and nursing strategies[J]. Zhihui Jiankang, 2022, 8(26): 243-246.
[13]	招瑞兴, 何丽展, 吴志冬. 高渗盐水纱联合优拓对肉芽组织水肿创面的效果观察[J]. 天津护理, 2016, 24(03): 210-211.
	Zhao R, He L, Wu Z. Observation on the effect of hypertonic saline gauze combined with urgotul on wounds with granulation tissue edema[J]. Tianjin Huli, 2016, 24(3): 210-211.
[14]	Buddhe S, Cripe L, Friedland-Little J, et al. Cardiac management of the patient with duchenne muscular dystrophy[J]. Pediatrics, 2018, 142(Suppl 2): S72-S81.
[15]	Waldrop MA, Flanigan KM. Update in Duchenne and Becker muscular dystrophy[J]. Curr Opin Neurol, 2019, 32(5): 722-727. doi: 10.1097/WCO.0000000000000739 pmid: 31343429
[16]	叶长青, 许晶莉, 高晶, 等. 夜间膝踝足矫形器治疗痉挛型双瘫患儿的疗效观察[J]. 中国康复, 2016, 31(4): 301-302.
	Ye C, Xu J, Gao J, et al. Observation on the curative effect of night-time knee ankle foot orthosis in the treatment of children with spastic diplegia[J]. Zhongguo Kangfu, 2016, 31(4): 301-302.
[17]	李鹏程, 陈奇刚, 耿春梅, 等. 踝足矫形器在脑卒中的应用[J]. 中国康复, 2019, 34(2): 98-100.
	Li P, Chen Q, Geng C, et al. Application of ankle-foot orthosis in stroke[J]. Zhongguo Kangfu, 2019, 34(2): 98-100.
[18]	Young H, Bray P, Mckinnon K, et al. Everyday life participation using powered wheelchair standing devices by boys with DMD[J]. OTJR (Thorofare N J), 2021, 41(3): 175-184.
[19]	Jumah MA, Muhaizea MA, Rumayyan AA, et al. Current management of Duchenne muscular dystrophy in the Middle East: expert report[J]. Neurodegener Dis Manag, 2019, 9(3): 123-133. doi: 10.2217/nmt-2019-0002 pmid: 31166138
[20]	喻洪流. 康复器械临床应用指南[M]. 北京: 人民卫生出版社, 2020.
	Yu H. Clinical application guide for rehabilitation equipment[M]. Beijing: People's Medical Publishing House, 2020.
[21]	何苗, 蔡晓唐, 彭文涛, 等. 杜氏肌营养不良(DMD)患儿营养状况与膳食营养摄入情况的横断面研究[J]. 四川大学学报(医学版), 2022, 53(6): 1068-1073.
	He M, Cai X, Peng W, et al. A cross-sectional study on the nutritional status and dietary nutrient intake of children with Duchenne Muscular Dystrophy (DMD)[J]. Sichuan Daxue Xuebao (Med Sci Ed), 2022, 53(6): 1068-1073.
[22]	中国营养学会. 中国居民膳食指南(2022)[M]. 上海: 复旦大学出版社, 2022.
	Chinese Nutrition Society. Dietary Guidelines for Chinese Residents (2022)[M]. Shanghai: Fudan University Press, 2022.
[23]	王泠, 胡爱玲. 压力性损伤临床防治国际指南2019 第3版[M]. 北京: 人民卫生出版社, 2019.
	Wang L, Hu A. International guidelines for the clinical prevention and treatment of pressure injuries (3^rd Edition, 2019)[M]. Beijing: People’s Medical Publishing House, 2019.
[24]	Gray M, Bliss DZ, Mcnichol L. Moisture-associated skin damage: expanding and updating practice based on the newest ICD-10-CM codes[J]. J Wound Ostomy Continence Nurs, 2022, 49(2): 143-151. doi: 10.1097/WON.0000000000000865 pmid: 35255065
[25]	Fölster-Holst R. Itch Management in Childhood[J]. Curr Probl Dermatol, 2016, 50: 173-191. doi: 10.1159/000446090 pmid: 27578087
[26]	陈可塑, 许敏怡, 蒋琪霞, 等. 凝胶床垫和充气床垫对老年卧床患者骶尾部压力和皮肤温度影响的比较研究[J]. 中国全科医学, 2023, 26(23): 2882-2887. doi: 10.12114/j.issn.1007-9572.2022.0741
	Chen K, Xu M, Jiang Q, et al. A comparative study on the effects of gel mattresses and inflatable mattresses on sacrococcygeal pressure and skin temperature in elderly bedridden patients[J]. Zhongguo Quanke Yixue, 2023, 26(23): 2882-2887.
[27]	董会, 董玉茹, 吴士文. Duchenne型肌营养不良患儿认知功能损害的研究进展[J]. 中华灾害救援医学, 2016, 4(6): 345-348.
	Dong H, Dong Y, Wu S. Research progress on cognitive function impairment in children with duchenne muscular dystrophy[J]. Zhonghua Zaihai Jiuyuan Yixue, 2016, 4(6): 345-348.