进行性假肥大性肌营养不良患者康复现状调查

doi:10.3969/j.issn.1006-9771.2022.09.013

《中国康复理论与实践》 ›› 2022, Vol. 28 ›› Issue (9): 1089-1095.doi: 10.3969/j.issn.1006-9771.2022.09.013

进行性假肥大性肌营养不良患者康复现状调查

陈新宇¹,吴士文^1,²()

1.安徽医科大学武警总医院临床学院（解放军总医院第三医学中心）,安徽合肥市 230032
2.解放军总医院第一医学中心神经内科医学部,北京市 100853

收稿日期:2022-05-10 修回日期:2022-08-02 出版日期:2022-09-25 发布日期:2022-10-08
通讯作者: 吴士文 E-mail:wu_shiwen@outlook.com
作者简介:陈新宇(1996-),女,汉族,四川内江市人,硕士研究生,主要研究方向：神经肌肉疾病、神经系统遗传性疾病。|吴士文(1970-),男,主任医师、教授,主要研究方向：神经肌肉疾病、神经系统遗传性疾病。
基金资助:
国家自然科学基金重点项目(81930121)

Participation of rehabilitation for patients with Duchenne muscular dystrophy

CHEN Xinyu¹,WU Shiwen^1,²()

1. Clinical College of General Hospital of Chinese People's Armed Police Force of Anhui Medical University/the Third Medical Center of Chinese PLA General Hospital, Hefei, Anhui 230032, China
2. Department of Neurology, the First Medical Centre of Chinese PLA General Hospital, Beijing 100853, China

Received:2022-05-10 Revised:2022-08-02 Published:2022-09-25 Online:2022-10-08
Contact: WU Shiwen E-mail:wu_shiwen@outlook.com
Supported by:
National Natural Science of China (Key)(81930121)

摘要/Abstract

摘要：

目的调查进行性假肥大性肌营养不良(DMD)患者康复情况与需求。
方法对2018年10月至2022年3月就诊于安徽医科大学武警总医院DMD门诊患者进行基本信息和康复情况问卷调查。
结果共发放问卷963份,回收有效问卷944份(98.0%)。患者均为男性,年龄5~27岁,平均(9.24±0.184)岁;710例可独立行走;140例定期到专业机构进行康复训练,618例规律进行有氧运动,416例规律进行关节拉伸训练,292例规律使用辅助器具。538例对康复效果不满意,658例存在康复知识获取困难。Logistic回归显示,规律进行康复锻炼的患者丧失独立行走能力的风险下降(OR < 0.61, P < 0.05)。
结论 DMD患者有较为广泛的康复需求,但有氧运动锻炼率、关节拉伸训练率和辅助器具使用率较低,可能影响患者运动功能和生活质量。

关键词: 进行性假肥大性肌营养不良, 康复, 问卷调查, 行走

Abstract:

Objective To investigate the situation and related needs of rehabilitation for patients with Duchenne muscular dystrophy (DMD).
Methods From October, 2018 to March, 2022, the patients with DMD of Multiple Disciplinary Team Clinic, General Hospital of Chinese People's Armed Police Force of Anhui Medical University, were investigated basic information and rehabilitation-related issues with questionnaire.
Results A total of 963 questionnaires were send out and 944 valid questionnaires were analyzed (98.0%). The patients were all male, aged five to 27 years, with a mean of (9.24±0.184) years. For the 944 patients, 710 cases could walk independently, 140 accepted rehabilitation exercises in institutions regularly, 618 participated aerobic exercise regularly, 416 participated joint stretching regularly, and 292 used aids regularly; 538 dissatisfied the effect of rehabilitation, and 658 complained the difficulties in acquiring rehabilitation knowledge. Logistic regression showed that regular rehabilitation participation reduced the risk of walking loss (OR < 0.61, P < 0.05).
Conclusion Patients with DMD need an extensive range of rehabilitation, while the participation of aerobic exercise, joint stretching training and the use of aids is poor, which may influence the motor function and quality of life.

Key words: Duchenne muscular dystrophy, rehabilitation, questionnaire, walking

中图分类号:

R746.2

陈新宇,吴士文. 进行性假肥大性肌营养不良患者康复现状调查[J]. 《中国康复理论与实践》, 2022, 28(9): 1089-1095.

CHEN Xinyu,WU Shiwen. Participation of rehabilitation for patients with Duchenne muscular dystrophy[J]. 《Chinese Journal of Rehabilitation Theory and Practice》, 2022, 28(9): 1089-1095.

图/表 5

表1

表2

表3

表4

表5

参考文献 40

[1]	KE Q, ZHAO Z Y, GRIGGS R, et al. Newborn screening for Duchenne muscular dystrophy in China: follow-up diagnosis and subsequent treatment[J]. World J Pediatr, 2017, 13(3): 197-201. doi: 10.1007/s12519-017-0036-3 pmid: 28466241
[2]	DUAN D, GOEMANS N, TAKEDA S, et al. Duchenne muscular dystrophy[J]. Nat Rev Dis Primers, 2021, 7(1): 13-31. doi: 10.1038/s41572-021-00248-3 pmid: 33602943
[3]	BIRNKRANT D J, BUSHBY K, BANN C M, et al. Diagnosis and management of Duchenne muscular dystrophy, part 1: diagnosis, and neuromuscular, rehabilitation, endocrine, and gastrointestinal and nutritional management[J]. Lancet Neurol, 2018, 17(3): 251-267. doi: S1474-4422(18)30024-3 pmid: 29395989
[4]	CASE L E, APKON S D, EAGLE M, et al. Rehabilitation management of the patient with Duchenne muscular dystrophy[J]. Pediatrics, 2018, 142(Suppl 2): S17-S33. doi: 10.1542/peds.2018-0333D
[5]	PANGILINAN P H, HORNYAK J E. Rehabilitation of the muscular dystrophies[J]. Handb Clin Neurol, 2013, 110: 471-481. doi: 10.1016/B978-0-444-52901-5.00040-X pmid: 23312665
[6]	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): 96-107. doi: 10.1186/s13018-022-02996-8 pmid: 35168641
[7]	中华医学会神经病学分会,中华医学会神经病学分会神经肌肉病学组,中华医学会神经病学分会肌电图与临床神经生理学组. 中国假肥大型肌营养不良症诊治指南[J]. 中华神经科杂志, 2016, 49(1): 17-20.
	Chinese Medical Association of Neurology, Chinese Medical Association of Neurology Neuromuscular Disease Group, Chinese Medical Association of Neurology Electromyography and Clinical Neurophysiology Group. Chin J Neurol, 2016, 49(1): 17-20.
[8]	中华医学会医学遗传学分会遗传病临床实践指南撰写组. 杜氏进行性肌营养不良的临床实践指南[J]. 中华医学遗传学杂志, 2020, 37(3): 258-262.
	Writing Group for Practice Guidelines for Diagnosis and Treatment of Genetic Diseases, Medical Genetics Branch of Chinese Medical Association. Clinical Practice Guidelines for Duchenne Muscular Dystrophy[J]. Chin J Med Genet, 2020, 37(3): 258-262.
[9]	MCDONALD C M, HENRICSON E K, ABRESCH R T, et al. Long-term effects of glucocorticoids on function, quality of life, and survival in patients with Duchenne muscular dystrophy: a prospective cohort study[J]. Lancet, 2018, 391(10119): 451-461. doi: S0140-6736(17)32160-8 pmid: 29174484
[10]	BLADEN C L, SALGADO D, MONGES S, et al. The TREAT-NMD DMD Global Database: analysis of more than 7,000 Duchenne muscular dystrophy mutations[J]. Hum Mutat, 2015, 36(4): 395-402. doi: 10.1002/humu.22758 pmid: 25604253
[11]	TUFFERY-GIRAUD S, BÉROUD C, LETURCQ F, et al. Genotype-phenotype analysis in 2,405 patients with a dystrophinopathy using the UMD-DMD database: a model of nationwide knowledgebase[J]. Hum Mutat, 2009, 30(6): 934-945. doi: 10.1002/humu.20976
[12]	MA P, ZHANG S, ZHANG H, et al. Comprehensive genetic characteristics of dystrophinopathies in China[J]. Orphanet J Rare Dis, 2018, 13(1): 109-118. doi: 10.1186/s13023-018-0853-z pmid: 29973226
[13]	LANDFELDT E, LINDGREN P, BELL C F, et al. Compliance to Care Guidelines for Duchenne Muscular Dystrophy[J]. J Neuromuscul Dis, 2015, 2(1): 63-72. doi: 10.3233/JND-140053 pmid: 26870664
[14]	密忠祥, 黄秋晨, 刘菲, 等. 我国康复机构服务及运营管理现状分析[J]. 中国康复理论与实践, 2015, 21(1): 103-105.
	MI Z X, HUANG Q C, LIU F, et al. Operation and administration of rehabilitation institutions in China[J]. Chin J Rehabil Theory Pract, 2015, 21(1): 103-105.
[15]	JIA J, WANG H, CHEN S, et al. Status of the community-based rehabilitation in China reflected from multilevel medical institutions[J]. Ann Phys Rehabil Med, 2018, 61: e403.
[16]	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
[17]	SCHWARTZ C E, STARK R B, AUDHYA I F, et al. Characterizing the quality-of-life impact of Duchenne muscular dystrophy on caregivers: a case-control investigation[J]. J Patient Rep Outcomes, 2021, 5(1): 124-139. doi: 10.1186/s41687-021-00386-y pmid: 34800189
[18]	LANDFELDT E, MAYHEW A, STRAUB V, et al. Psychometric properties of the Zarit Caregiver Burden Interview administered to caregivers to patients with Duchenne muscular dystrophy: a Rasch analysis[J]. Disabil Rehabil, 2019, 41(8): 966-973. doi: 10.1080/09638288.2017.1416501 pmid: 29254382
[19]	HENSON S E, LANG S M, KHOURY P R, et al. The effect of adiposity on cardiovascular function and myocardial fibrosis in patients with Duchenne muscular dystrophy[J]. J Am Heart Assoc, 2021, 10(19): e021037. doi: 10.1161/JAHA.121.021037
[20]	AMOR F, VU HONG A, CORRE G, et al. Cholesterol metabolism is a potential therapeutic target in Duchenne muscular dystrophy[J]. J Cachexia Sarcopenia Muscle, 2021, 12(3): 677-693. doi: 10.1002/jcsm.12708 pmid: 34037326
[21]	TANAKA C, REILLY J J, TANAKA M, et al. Changes in weight, sedentary behaviour and physical activity during the school year and summer vacation[J]. Int J Environ Res Public Health, 2018, 15(5): 915-933. doi: 10.3390/ijerph15050915
[22]	JACQUES M F, ONAMBELE-PEARSON G L, REEVES N D, et al. Relationships between muscle size, strength, and physical activity in adults with muscular dystrophy[J]. J Cachexia Sarcopenia Muscle, 2018, 9(6): 1042-1052. doi: 10.1002/jcsm.12347 pmid: 30338901
[23]	ALMASRI N A, AN M, PALISANO R J. Parents' perception of receiving family-centered care for their children with physical disabilities: a meta-analysis[J]. Phys Occup Ther Pediatr, 2018, 38(4): 427-443. doi: 10.1080/01942638.2017.1337664 pmid: 28753054
[24]	CAMDEN C, SWAINE B, TETREAULT S, et al. Reorgnizing pediatric rehabilitation services to improve accessibility: do we sacrifice quality?[J]. BMC Health Serv Res, 2010, 10: 227-237. doi: 10.1186/1472-6963-10-227
[25]	MOLINARO A, FEDRIZZI E, CALZA S, et al. Family-centred care for children and young people with cerebral palsy: results from an Italian multicenter observational study[J]. Child Care Health Dev, 2017, 43(4): 588-597. doi: 10.1111/cch.12449
[26]	VRY J, GRAMSCH K, RODGER S, et al. European cross-sectional survey of current care practices for Duchenne muscular dystrophy reveals regional and age-dependent differences[J]. J Neuromuscul Dis, 2016, 3(4): 517-527.
[27]	LANDFELDT E, LINDGREN P, BELL C F, et al. The burden of Duchenne muscular dystrophy: an international, cross-sectional study[J]. Neurology, 2014, 83(6): 529-536. doi: 10.1212/WNL.0000000000000669 pmid: 24991029
[28]	VAN DER KOOI E L, VOGELS O J, VAN ASSELDONK R J, et al. Strength training and albuterol in facioscapulohumeral muscular dystrophy[J]. Neurology, 2004, 63(4): 702-708. pmid: 15326246
[29]	SVEEN M L, JEPPESEN T D, HAUERSLEV S, et al. Endurance training improves fitness and strength in patients with Becker muscular dystrophy[J]. Brain, 2008, 131(Pt 11): 2824-2831. doi: 10.1093/brain/awn189 pmid: 18776212
[30]	KOGELMAN B, PUTKER K, HULSKER M, et al. Voluntary exercise improves muscle function and does not exacerbate muscle and heart pathology in aged Duchenne muscular dystrophy mice[J]. J Mol Cell Cardiol, 2018, 125(18): 29-38. doi: 10.1016/j.yjmcc.2018.10.008
[31]	HUGHES K J, RODRIGUEZ A, FLATT K M, et al. Physical exertion exacerbates decline in the musculature of an animal model of Duchenne muscular dystrophy[J]. Proc Natl Acad Sci U S A, 2019, 116(9): 3508-3517. doi: 10.1073/pnas.1811379116 pmid: 30755520
[32]	ZHANG S, QIN D, WU L, et al. Genotype characterization and delayed loss of ambulation by glucocorticoids in a large cohort of patients with Duchenne muscular dystrophy[J]. Orphanet J Rare Dis, 2021, 16(1): 188-195. doi: 10.1186/s13023-021-01837-x pmid: 33910603
[33]	BUSHBY K, FINKEL R, BIRNKRANT D J, et al. Diagnosis and management of Duchenne muscular dystrophy, part 2: implementation of multidisciplinary care[J]. Lancet Neurol, 2010, 9(2): 177-189. doi: 10.1016/S1474-4422(09)70272-8 pmid: 19945914
[34]	ALEMDAROĞLU I, KARADUMAN A, YILMAZ Ö T, et al. Different types of upper extremity exercise training in Duchenne muscular dystrophy: effects on functional performance, strength, endurance, and ambulation[J]. Muscle Nerve, 2015, 51(5): 697-705. doi: 10.1002/mus.24451 pmid: 25196721
[35]	JANSEN M, VAN ALFEN N, GEURTS A C, et al. Assisted bicycle training delays functional deterioration in boys with Duchenne muscular dystrophy: the randomized controlled trial "no use is disuse"[J]. Neurorehabil Neural Repair, 2013, 27(9): 816-827. doi: 10.1177/1545968313496326 pmid: 23884013
[36]	WAGNER K R, LECHTZIN N, JUDGE D P. Current treatment of adult Duchenne muscular dystrophy[J]. Biochim Biophys Acta, 2007, 1772(2): 229-237. pmid: 16887341
[37]	PELLEGRINI N, GUILLON B, PRIGENT H, et al. Optimization of power wheelchair control for patients with severe Duchenne muscular dystrophy[J]. Neuromuscul Disord, 2004, 14(5): 297-300. doi: 10.1016/j.nmd.2004.02.005
[38]	LEE L W, KERRIGAN D C, DELLA CROCE U. Dynamic implications of hip flexion contractures[J]. Am J Phys Med Rehabil, 1997, 76(6): 502-508. doi: 10.1097/00002060-199711000-00013
[39]	HALAWI M J, LARK R K, FITCH R D. Neuromuscular scoliosis: current concepts[J]. Orthopedics, 2015, 38(6): e452-e456.
[40]	MCDONALD C M, ABRESCH R T, CARTER G T, et al. Profiles of neuromuscular diseases. Duchenne muscular dystrophy[J]. Am J Phys Med Rehabil, 1995, 74(5 Suppl): S70-S92. doi: 10.1097/00002060-199509001-00003

变量	n
年龄
< 10岁	543
≥ 10岁	401
基因突变类型
大缺失突变	679
大重复突变	64
小突变	201
使用糖皮质激素
是	598
否	346
拥有独立行走能力
是	710
否	234

变量	n
定期到专业机构进行康复
是	140
否	804
规律有氧运动
是	618
否	326
规律关节拉伸
是	416
否	528
规律使用辅助器具	292
斜板	219
矫形鞋	108
辅助站立架	79
定制电动轮椅	156
家人督导患者锻炼
是	808
否	136

变量	n
康复效果满意度
不满意	538
较满意	362
很满意	44
康复主要困难
照料者时间不足	313
康复知识获取困难	658
主动康复配合度低	577
康复方面的需求
人力上帮助	405
专业康复培训指导	667
DMD专业照护师培训	675

变量	能独立行走组(n = 710)	不能独立行走组(n = 234)	t/χ²值	P值
年龄/岁	7.93±0.18	13.26±0.39	13.740	< 0.001
使用糖皮质激素/n			0.187	0.665
是	447	151
否	263	83
患者基因突变类型/n			0.271	0.873
大缺失突变	508	171
大重复突变	48	16
小突变	154	47
定期到专业机构康复/n			0.076	0.783
是	104	36
否	606	198
家人督导患者锻炼/n			6.958	0.008
是	620	188
否	90	46
规律有氧运动/n			40.596	< 0.001
是	505	113
否	205	121
规律关节拉伸/n			12.321	< 0.001
是	336	80
否	374	154
规律使用康复辅助器具/n			185.959	< 0.001
是	136	156
否	574	78
对康复锻炼效果的满意度/n			28.924	< 0.001
不满意	370	168
较满意	306	56
很满意	34	10

变量	模型1		模型2
变量	OR(95%CI)	P值	OR(95%CI)	P值
规律有氧运动	0.59(0.28~0.51)	< 0.001	0.39(0.27~0.57)	< 0.001
规律使用康复器具	0.37(0.27~050)	< 0.001	0.45(0.31~0.65)	< 0.001
规律关节拉伸	0.59(0.39~0.90)	0.013	0.61(0.38~0.96)	0.033

进行性假肥大性肌营养不良患者康复现状调查

Participation of rehabilitation for patients with Duchenne muscular dystrophy

RichHTML

PDF (PC)

可视化

摘要/Abstract

引用本文

使用本文

图/表 5

参考文献 40

相关文章 15

Metrics

本文评价

推荐阅读 0

[1]	钱李果, 吴同绚, 张巧云, 邢剑, 杨延砚. 康复治疗师继续教育病例库联合案例学习法的设计与运用效果[J]. 《中国康复理论与实践》, 2026, 32(3): 249-257.
[2]	安乐, 覃小霞, 顾彬, 胡国兵, 田维毅. 职业本科康复治疗专业“双师型”教师胜任力模型：基于康复胜任力架构与多源标准的融合研究[J]. 《中国康复理论与实践》, 2026, 32(3): 258-269.
[3]	刘华, 王丽媛, 马欣, 李静, 王丽. 基于OBE-CDIO模式运动康复训练教程课程改革的效果[J]. 《中国康复理论与实践》, 2026, 32(3): 270-275.
[4]	刘霞, 张元民, 葛淑惠, 刘金美, 孙晨鸣, 王元会, 刘静, 李文福. 新医科背景下地方院校康复治疗人才培养模式的构建与实践[J]. 《中国康复理论与实践》, 2026, 32(3): 276-285.
[5]	朱丽丽, 赵嘉欣, 程雪, 王会娟, 陈小霞. 康复期脑卒中患者疾病体验及需求的Meta整合[J]. 《中国康复理论与实践》, 2026, 32(3): 286-293.
[6]	刘平, 周楠, 薛晓杰, 邵伟波. 脑卒中后吞咽障碍康复治疗技术应用研究的文献计量分析[J]. 《中国康复理论与实践》, 2026, 32(3): 294-303.
[7]	蒲心语, 王靖萱, 王虎军, 修安达, 王颖鹏. 重复外周磁刺激在康复治疗中应用的文献计量分析[J]. 《中国康复理论与实践》, 2026, 32(3): 304-316.
[8]	张文静, 李浩, 袁佳佳, 胡怀宁. 远程监督指导下居家肺部音乐疗法对慢性阻塞性肺疾病的效果[J]. 《中国康复理论与实践》, 2026, 32(3): 337-344.
[9]	吴世彩. 康复伦理管理的理论构建与实践探索[J]. 《中国康复理论与实践》, 2026, 32(2): 125-131.
[10]	何照楠, 张婷婷, 何照珂, 孟丽君. 基于BERTopic模型的我国康复伦理研究主题挖掘与内容分析[J]. 《中国康复理论与实践》, 2026, 32(2): 132-141.
[11]	孟丽君. 残疾儿童康复研究伦理审查的挑战与思考[J]. 《中国康复理论与实践》, 2026, 32(2): 142-150.
[12]	李水艳, 李湘, 李彦慧, 陆翊濛, 李杜娟, 杨小良, 谢秋幼. 气道廓清技术在重症康复应用的文献计量分析[J]. 《中国康复理论与实践》, 2026, 32(2): 162-173.
[13]	夏岩, 徐思维, 祝岩岩, 王凤丽, 梁思捷, 李兢业, 梅光艳, 项洁. 基于数字健康模式下个性化帕金森病居家康复的效果[J]. 《中国康复理论与实践》, 2026, 32(2): 181-190.
[14]	祁莉, 张雷, 漆毅, 冯立军, 刘冬梅, 马慧娜. 心肺康复运动对老年慢性阻塞性肺疾病并发慢性心力衰竭患者的效果[J]. 《中国康复理论与实践》, 2026, 32(2): 191-197.
[15]	黄茹, 邱梓瑜, 蔡东星, 卢讯文, 高潮铨. 智能工作模拟训练联合活动调试技术对头痛型脑损伤患者职业相关身体功能的效果[J]. 《中国康复理论与实践》, 2026, 32(2): 215-221.