First familial Becker muscular dystrophy in Tanzania: Clinical and genetic features'
First familial Becker muscular dystrophy in Tanzania: Clinical and genetic features'
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DOI：
10.1016/j.nmd.2019.01.006
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发表时间：
2019-04-01
影响因子：
2.8
通讯作者：
Hamel, B. C.
中科院分区：
文献类型：
--
作者：
Dekker, M. C. J.;Tieleman, A. A.;Hamel, B. C.
在非洲神经病学实践中，肌肉疾病要么诊断不足，要么代表性不足。这可能部分是由于其他更常见的神经系统疾病的巨大负担。在这份报告中，我们描述了第一个坦桑尼亚患者的基因证实贝克尔肌营养不良症。他的表型和基因型与世界上其他地方的一致。值得注意的是，这名患者报告称，他的腿部进行性无力，仅在跌倒后行走困难。我们证明，肌肉萎缩症发生在撒哈拉以南非洲。然而，神经科医生必须意识到，患者可能会推迟寻求肌肉疾病的医疗护理。(C)2019 Elsevier B.V.版权所有。
In African neurological practice, muscle disorders are either underdiagnosed or underrepresented. This may in part be due to the large burden of other more common neurological disorders. In this report we describe the first Tanzanian patient with genetically confirmed Becker muscular dystrophy. His phenotype and genotype were compatible with elsewhere in the world. Remarkably, this patient reported his progressive weakness of the legs with difficulty in walking only after a fall. We demonstrate that muscular dystrophies occur in sub-Saharan Africa. Neurologists must however be aware that patients are likely to delay seeking medical care for muscle disorders. (C) 2019 Elsevier B.V. All rights reserved.