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杜兴氏肌营养不良症:病例报告与综述

Duchenne muscular dystrophy: Case report and review.

作者信息

Sinha Rupam, Sarkar Soumyabrata, Khaitan Tanya, Dutta Soumyajit

机构信息

Department of Oral Medicine and Radiology, Haldia Institute of Dental Sciences and Research, Haldia, West Bengal, India.

出版信息

J Family Med Prim Care. 2017 Jul-Sep;6(3):654-656. doi: 10.4103/2249-4863.222015.

DOI:10.4103/2249-4863.222015
PMID:29417026
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC5787973/
Abstract

Muscular dystrophies are a clinically and heterogeneous group of disorders that all share clinical characteristics of progressive muscular weakness. Duchenne muscular dystrophy (DMD) is the most common X-linked disorder muscular dystrophy in children, presenting in early childhood and characterized by proximal muscle weakness and calf hypertrophy in affected boys. There is usually delay in motor development and eventually wheelchair confinement followed by premature death from cardiac or respiratory complications. Treatment modalities such as corticosteroid therapy and use of intermittent positive pressure ventilation have provided improvements in function, ambulation, quality of life, and life expectancy, although novel therapies still aim to provide a cure for this devastating disorder. Here, we present a case of DMD in a 12-year-old male with remarkable clinical and oral manifestations.

摘要

肌营养不良症是一组临床症状多样的疾病,它们都具有进行性肌肉无力的临床特征。杜氏肌营养不良症(DMD)是儿童中最常见的X连锁隐性遗传性肌营养不良症,发病于幼儿期,患病男孩的特征为近端肌无力和小腿肥大。通常会出现运动发育迟缓,最终导致需依靠轮椅行动,随后因心脏或呼吸并发症而过早死亡。尽管新疗法仍旨在治愈这种毁灭性疾病,但皮质类固醇疗法和间歇性正压通气等治疗方式已在功能、行走能力、生活质量和预期寿命方面带来了改善。在此,我们报告一例12岁男性杜氏肌营养不良症患者,其具有显著的临床和口腔表现。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/56d5/5787973/8f38108bd5cc/JFMPC-6-654-g004.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/56d5/5787973/a2a0cf979e12/JFMPC-6-654-g001.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/56d5/5787973/a2f480ece86d/JFMPC-6-654-g002.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/56d5/5787973/957e51a40439/JFMPC-6-654-g003.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/56d5/5787973/8f38108bd5cc/JFMPC-6-654-g004.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/56d5/5787973/a2a0cf979e12/JFMPC-6-654-g001.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/56d5/5787973/a2f480ece86d/JFMPC-6-654-g002.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/56d5/5787973/957e51a40439/JFMPC-6-654-g003.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/56d5/5787973/8f38108bd5cc/JFMPC-6-654-g004.jpg

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本文引用的文献

1
A Rare Case Report of Neurodegenerative Disease: Duchenne Muscular Dystrophy in Two Male Siblings.一例神经退行性疾病的罕见病例报告:两名男性同胞患杜氏肌营养不良症。
Int J Clin Pediatr Dent. 2015 May-Aug;8(2):163-5. doi: 10.5005/jp-journals-10005-1306. Epub 2015 Aug 11.
2
Genetic and Clinical Profile of Patients of Duchenne Muscular Dystrophy: Experience from a Tertiary Care Center in Eastern India.杜氏肌营养不良症患者的遗传与临床特征:来自印度东部一家三级医疗中心的经验
Indian Pediatr. 2015 Jun;52(6):481-4. doi: 10.1007/s13312-015-0660-8.
3
Large-scale serum protein biomarker discovery in Duchenne muscular dystrophy.
CRISPR-Cas9 基因编辑系统的各个方面。
Int J Mol Sci. 2020 Dec 16;21(24):9604. doi: 10.3390/ijms21249604.
杜氏肌营养不良症中大规模血清蛋白生物标志物的发现
Proc Natl Acad Sci U S A. 2015 Jun 9;112(23):7153-8. doi: 10.1073/pnas.1507719112. Epub 2015 May 26.
4
Carrier detection in Duchenne muscular dystrophy using molecular methods.利用分子方法进行杜氏肌营养不良症的携带者检测。
Indian J Med Res. 2013 Jun;137(6):1102-10.
5
The muscular dystrophies.肌肉萎缩症。
Semin Neurol. 2012 Jul;32(3):255-63. doi: 10.1055/s-0032-1329199. Epub 2012 Nov 1.
6
Physical training in boys with Duchenne Muscular Dystrophy: the protocol of the No Use is Disuse study.患有杜氏肌营养不良症的男孩的体能训练:不用即废研究的方案。
BMC Pediatr. 2010 Aug 6;10:55. doi: 10.1186/1471-2431-10-55.
7
Best practice guidelines on molecular diagnostics in Duchenne/Becker muscular dystrophies.杜兴氏/贝克氏肌营养不良症分子诊断的最佳实践指南。
Neuromuscul Disord. 2010 Jun;20(6):422-7. doi: 10.1016/j.nmd.2010.04.005. Epub 2010 May 13.
8
Diagnosis and management of Duchenne muscular dystrophy, part 1: diagnosis, and pharmacological and psychosocial management.杜氏肌营养不良症的诊断和管理,第 1 部分:诊断、药理学和心理社会管理。
Lancet Neurol. 2010 Jan;9(1):77-93. doi: 10.1016/S1474-4422(09)70271-6. Epub 2009 Nov 27.
9
Duchenne muscular dystrophy.杜兴氏肌肉营养不良症
Neurol India. 2008 Jul-Sep;56(3):236-47. doi: 10.4103/0028-3886.43441.