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一名患有杜氏肌营养不良症的儿童：非洲地区罕见诊断病例报告

A child with duchenne muscular dystrophy: A case report of a rare diagnosis among Africans.

作者信息

Nassoro David D, Torres Liset, Marando Rehema, Mboma Lazaro, Mushi Seraphine, Habakkuk Mwakyula Issakwisa

机构信息

Department of Internal Medicine Mbeya Zonal Referral Hospital Mbeya Tanzania.

Department of Internal Medicine The University of Dar es Salaam Mbeya College of Health and Allied Sciences Mbeya Tanzania.

出版信息

Clin Case Rep. 2020 Aug 18;8(12):2654-2660. doi: 10.1002/ccr3.3254. eCollection 2020 Dec.

DOI:10.1002/ccr3.3254
PMID:33363799
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC7752564/
Abstract

In Africa, lack of awareness and low index of suspicion of rare diseases like dystrophinopathies, directly or indirectly, contributes to the increased morbidity and mortality. Therefore, even though the data on prevalence is limited, we need to have a high degree of suspicion in patients presenting with suggestive clinical features.

摘要

在非洲，对诸如肌营养不良症等罕见疾病缺乏认识且怀疑指数较低，直接或间接地导致了发病率和死亡率的上升。因此，尽管关于患病率的数据有限，但对于具有提示性临床特征的患者，我们仍需保持高度怀疑。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/083a/7752564/0b54b210d78c/CCR3-8-2654-g006.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/083a/7752564/0c188016e2b7/CCR3-8-2654-g001.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/083a/7752564/2fd587f598bb/CCR3-8-2654-g002.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/083a/7752564/877be58657f2/CCR3-8-2654-g003.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/083a/7752564/78a105df025f/CCR3-8-2654-g004.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/083a/7752564/74c14d938a49/CCR3-8-2654-g005.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/083a/7752564/0b54b210d78c/CCR3-8-2654-g006.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/083a/7752564/0c188016e2b7/CCR3-8-2654-g001.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/083a/7752564/2fd587f598bb/CCR3-8-2654-g002.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/083a/7752564/877be58657f2/CCR3-8-2654-g003.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/083a/7752564/78a105df025f/CCR3-8-2654-g004.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/083a/7752564/74c14d938a49/CCR3-8-2654-g005.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/083a/7752564/0b54b210d78c/CCR3-8-2654-g006.jpg

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J Neuromuscul Dis. 2018;5(4):481-495. doi: 10.3233/JND-180306.
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Descriptive Phenotype of Obsessive Compulsive Symptoms in Males With Duchenne Muscular Dystrophy.杜氏肌营养不良症男性患者强迫症状的描述性表型
J Child Neurol. 2018 Aug;33(9):572-579. doi: 10.1177/0883073818774439. Epub 2018 May 20.
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Diagnosis and management of Duchenne muscular dystrophy, part 1: diagnosis, and neuromuscular, rehabilitation, endocrine, and gastrointestinal and nutritional management.
杜氏肌营养不良症的诊断和管理，第 1 部分：诊断和神经肌肉、康复、内分泌、胃肠和营养管理。
Lancet Neurol. 2018 Mar;17(3):251-267. doi: 10.1016/S1474-4422(18)30024-3. Epub 2018 Feb 3.
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Neurol India. 2017 Sep-Oct;65(5):993-1000. doi: 10.4103/neuroindia.NI_1241_16.
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The burden, epidemiology, costs and treatment for Duchenne muscular dystrophy: an evidence review.杜氏肌营养不良症的负担、流行病学、成本及治疗：一项证据综述
Orphanet J Rare Dis. 2017 Apr 26;12(1):79. doi: 10.1186/s13023-017-0631-3.
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