Treating pediatric neuromuscular disorders: The future is now.
Treating pediatric neuromuscular disorders: The future is now.
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DOI：
10.1002/ajmg.a.38418
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发表时间：
2018-04
期刊：
影响因子：
--
通讯作者：
Campbell C
中科院分区：
文献类型：
--
作者：
Dowling JJ;D Gonorazky H;Cohn RD;Campbell C
小儿神经肌肉疾病包括所有在儿童期发病的疾病，其主要病理区域是周围神经系统。这些条件在很大程度上是遗传的病因，只有那些遗传基础将在本次审查。这包括前角细胞的疾病（例如，脊髓性肌萎缩），外周神经（例如，腓骨肌萎缩症），神经肌肉接头（例如，先天性肌无力综合征）和肌肉（肌病和肌营养不良症）。从历史上看，儿科神经肌肉疾病一直被认为是没有治疗的可能性，并有可怕的疾病。这种看法已经逐渐改变，部分开始于皮质类固醇的发现和广泛应用于杜氏肌营养不良症。目前，几个令人兴奋的治疗途径正在研究中的一系列条件，提供了显着改善患者的发病率和死亡率的潜力，在某些情况下，治疗干预。在这篇综述中，我们将介绍最常见的儿科神经肌肉疾病的治疗现状，并详细介绍最有可能帮助这些毁灭性疾病的治疗策略。
Pediatric neuromuscular diseases encompass all disorders with onset in childhood and where the primary area of pathology is in the peripheral nervous system. These conditions are largely genetic in etiology, and only those with a genetic underpinning will be presented in this review. This includes disorders of the anterior horn cell (e.g., spinal muscular atrophy), peripheral nerve (e.g., Charcot–Marie–Tooth disease), the neuromuscular junction (e.g., congenital myasthenic syndrome), and the muscle (myopathies and muscular dystrophies). Historically, pediatric neuromuscular disorders have uniformly been considered to be without treatment possibilities and to have dire prognoses. This perception has gradually changed, starting in part with the discovery and widespread application of corticosteroids for Duchenne muscular dystrophy. At present, several exciting therapeutic avenues are under investigation for a range of conditions, offering the potential for significant improvements in patient morbidities and mortality and, in some cases, curative intervention. In this review, we will present the current state of treatment for the most common pediatric neuromuscular conditions, and detail the treatment strategies with the greatest potential for helping with these devastating diseases.
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影响因子：
11.1
作者：
Bolino A;Piguet F;Alberizzi V;Pellegatta M;Rivellini C;Guerrero-Valero M;Noseda R;Brombin C;Nonis A;D'Adamo P;Taveggia C;Previtali SC
通讯作者：
Previtali SC
影响因子：
10.8
作者：
Bauer, R.;MacGowan, G. A.;Straub, V.
通讯作者：
Straub, V.
影响因子：
3.7
作者：
Attarian, Shahram;Vallat, Jean-Michel;Cohen, Daniel
通讯作者：
Cohen, Daniel
影响因子：
3.5
作者：
Accornero, Federica;Kanisicak, Onur;Molkentin, Jeffery D.
通讯作者：
Molkentin, Jeffery D.
影响因子：
12.4
作者：
Bartoli, M;Roudaut, C;Richard, I
通讯作者：
Richard, I