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治疗儿童神经肌肉疾病:未来已来。

Treating pediatric neuromuscular disorders: The future is now.

作者信息

Dowling James J, D Gonorazky Hernan, Cohn Ronald D, Campbell Craig

机构信息

Division of Neurology, Hospital for Sick Children, Toronto, Ontario, Canada.

Program for Genetics and Genome Biology, Hospital for Sick Children, Toronto, Ontario, Canada.

出版信息

Am J Med Genet A. 2018 Apr;176(4):804-841. doi: 10.1002/ajmg.a.38418. Epub 2017 Sep 10.

Abstract

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.

摘要

小儿神经肌肉疾病包括所有在儿童期发病且主要病理部位位于周围神经系统的疾病。这些病症在病因上大多具有遗传性,本综述仅介绍那些有遗传基础的疾病。这包括前角细胞疾病(如脊髓性肌萎缩症)、周围神经疾病(如夏科 - 马里 - 图斯病)、神经肌肉接头疾病(如先天性肌无力综合征)以及肌肉疾病(肌病和肌营养不良症)。从历史上看,小儿神经肌肉疾病一直被普遍认为没有治疗可能且预后不佳。这种观念已逐渐改变,部分原因是皮质类固醇用于杜氏肌营养不良症的发现和广泛应用。目前,针对一系列病症,有几种令人兴奋的治疗途径正在研究中,有望显著改善患者的发病率和死亡率,在某些情况下还能进行治愈性干预。在本综述中,我们将介绍最常见小儿神经肌肉疾病的当前治疗状况,并详细阐述对这些毁灭性疾病最具帮助潜力的治疗策略。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/f72c/5900978/97f60ec0b46c/AJMG-176-804-g001.jpg

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