What is muscular dystrophy?
Muscular dystrophy is a general name for a group of rare diseases that cause muscle weakness. It is caused by mutations in certain genes. There are more than 30 different types of muscular dystrophy and each affects certain muscles and varies in severity. Some types of muscular dystrophy affect children while others don’t appear until adulthood.
最常见的类型，称为Duchenne肌肉营养不良，通常在2至5岁之间开始，症状迅速发展。大约50％的肌营养不良症患者具有这种类型。Duchenne肌肉营养不良最常影响男孩，尽管女孩可以继承该基因并将其传递给孩子。
Some other types of muscular dystrophy that can affect children include:
- 贝克尔：这种类型与Duchenne肌肉营养不良有关，但不那么严重。
- Emery-Dreifuss：Most common in boys, this type of muscular dystrophy causes weakness and progressive wasting of the lower leg and upper arm muscles.
- facioscapulohumeral：This type affects muscles in the face, upper arms and shoulders.
- 肢体束：这是一组遗传性肌肉丧失和无力的遗传条件。
- 肌发育症：这是成年人中最常见的肌肉营养不良，但有时会在婴儿期或童年时开始症状。
- 远端:也称为远端肌病，是一种不太严重的肌肉营养不良的形式，通常会缓慢进展。
随着时间的流逝，所有类型的肌营养不良症会变得更糟，并最终可能导致行走。某些类型的肌肉营养不良也会引起呼吸问题。
There is no cure for muscular dystrophy, but treatments can prevent complications and help with symptoms.
What are the symptoms of muscular dystrophy?
所有类型的肌肉营养不良的最常见症状是肌肉无力随着时间的流逝而变得更糟。
每种类型的肌肉营养不良都有其自身的特定症状：
Duchenne
- 经常跌倒
- 从撒谎或坐姿上站起来很难
- a waddling walk
- 困难跑步和跳跃
- enlarged calf muscles
Becker
- 在tip脚上行走
- 经常跌倒
- 肌肉痉挛
- later onset of symptoms than Duchenne
远端
- 手动动作麻烦并伸出手指
- 难以爬楼梯和步行
- inability to stand on the heels or hop
Emery-Dreifuss
- 从上臂和小腿开始的肌肉无力
- decreased movement in the spine, knees, elbows, ankles, and back of neck
- 肘部锁定在弯曲的位置
- rigid spine
facioscapulohumeral
- 眼睛和嘴巴周围的肌肉减弱
- 倾斜的肩膀或肩blade骨看起来“有翅”
- trouble speaking, swallowing, or chewing
- hearing problems
- 脊柱中的曲线
肢体束
- weakness around the hips that spreads to the legs, shoulders, and neck
- 经常跌倒
- a waddle when walking
- rigid spine
肌发育症
- 接管后无法放松肌肉
- 长脸和脖子长
- 麻烦吞咽
- 白内障，眼睑下垂和其他视力问题
- 睡意
- 在婴儿中，吞咽或呼吸困难，缺乏反射，脸部肌肉无力以及运动技能延迟
What are the causes of muscular dystrophy?
Muscular dystrophy is usually an inherited condition caused by a mutation in one of the genes that affect proteins in the muscles. This mutation causes the protein to be missing or altered so it doesn’t work correctly. Each type of muscular dystrophy is caused by a different mutation.
In some cases, the mutation is not inherited from a parent, but occurs spontaneously. In this case, the mutation can then be passed on future generations.
How we care for muscular dystrophy
在波士顿儿童医欧宝彩票平台院Neuromuscular Center, our team of specialists from neurology, orthopedic surgery, physical therapy and genetics are experienced in caring for children with muscular dystrophy. We are one of a few sites in the United States funded by the国立卫生研究院（NIH）和各种赞助商进行肌肉营养不良的临床研究。
