Duchenne muscular dystrophy

被引：219

作者：

Yiu, Eppie M. ^{[1
,2
,3
,4
]}

Kornberg, Andrew J. ^{[1
,3
,4
]}

机构：

[1] Royal Childrens Hosp Melbourne, Dept Neurol, Parkville, Vic 3052, Australia

[2] Univ Melbourne, Bruce Lefroy Ctr, Melbourne, Vic, Australia

[3] Univ Melbourne, Neurosci Res, Murdoch Childrens Res Inst, Melbourne, Vic, Australia

[4] Univ Melbourne, Dept Paediat, Melbourne, Vic, Australia

来源：

JOURNAL OF PAEDIATRICS AND CHILD HEALTH | 2015年 / 51卷 / 08期

基金：

英国医学研究理事会;

关键词：

corticosteroid; Duchenne; gene therapy; muscular dystrophy; non-invasive ventilation; positive pressure; HOME NOCTURNAL VENTILATION; CORTICOSTEROID TREATMENT; BECKER; SCOLIOSIS; SURVIVAL; CARRIERS; ANESTHESIA; MANAGEMENT; DISORDERS; SPECTRUM;

D O I：

10.1111/jpc.12868

中图分类号：

R72 [儿科学];

学科分类号：

100202 ;

摘要：

Duchenne muscular dystrophy, an X-linked disorder, has an incidence of one in 5000 boys and presents in early childhood with proximal muscle weakness. Untreated boys become wheelchair bound by the age of 12 years and die of cardiorespiratory complications in their late teens to early 20s. The use of corticosteroids, non-invasive respiratory support, and active surveillance and management of associated complications have improved ambulation, function, quality of life and life expectancy. The clinical features, investigations and management of Duchenne muscular dystrophy are reviewed, as well as the latest in some of the novel therapies.

引用

页码：759 / 764

页数：6

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