概述
What is Duchenne Muscular Dystrophy?
Duchenne muscular dystrophy is a genetic disorder characterized by the progressive loss of muscle. It is a multisystemic condition, affecting many parts of the body, which results in deterioration of the skeletal, heart, and lung muscles. Duchenne is caused by a change in the dystrophin gene. Without dystrophin, muscles are not able to function or repair themselves properly.
How common is Duchenne Muscular Dystrophy (DMD)?
Duchenne muscular dystrophy (DMD) is a rare muscle disorder, but it is one of the most frequent genetic conditions, affecting approximately 1 in 3,500 male births worldwide. It is usually recognized between 3 and 6 years of age.
Questions regarding your Duchenne Muscular Dystrophy?
You can reach the Accredo Duchenne Muscular Dystrophy care team between 8am to 11pm Monday through Friday and Saturday 8am to 5pm Eastern Standard Time.
24 小时客户服务中心
症状
What are the symptoms of Duchenne Muscular Dystrophy?
The average age of a Duchenne diagnosis is around 4 years. Many times there will be delays in early developmental milestones such as sitting, walking, and/or talking. Speech delay and the inability to keep up with peers will often be the first signs of the disorder. Weakness related to Duchenne muscular dystrophy (DMD) selectively affects the limb muscles close to the trunk before the ones far from it; the legs are affected before the arms. As the disease progresses, muscle weakness and atrophy spread to affect the lower legs, forearms, neck and trunk.
Toddlers and young children may seem clumsy, fall often and may have abnormal enlargement of the calves. Parents may note that children have trouble climbing stairs, getting up from the floor, or running. By school age, children may walk on their toes or the balls of their feet with a slightly waddling gait and fall frequently. To try to keep their balance, they may stick out their bellies and pull back their shoulders. Children also have difficulty raising their arms.
Many children with DMD begin using a wheelchair by the age of 12. In the teen years, activities involving the arms, legs, or trunk may require assistance or mechanical support. By the late teens, DMD may also be characterized by additional, potentially life-threatening complications, including weakness and deterioration of the heart muscle (cardiomyopathy).
How is Duchenne Muscular Dystrophy diagnosed?
A diagnosis of DMD is made based upon a thorough clinical evaluation, a detailed patient history, and a variety of specialized tests, including molecular genetic tests. If the genetic tests are not informative, surgical removal and microscopic examination (biopsy) of the affected muscle tissue may reveal characteristic changes to muscle fibers. Specialized blood tests (e.g., creatine kinase) that evaluate the presence and levels of certain proteins in muscle are also used.
Genetic testing involves analyzing the DNA of any cells (usually blood cells are used) to see whether there is a mutation in the dystrophin gene, and if so, exactly where it occurs. Samples of blood or muscles cells may be tested. These techniques can also be used to diagnosis DMD before birth (prenatally).
Blood tests may reveal elevated levels of the creatine kinase (CK), an enzyme that is found in abnormally high levels when muscle is damaged. The detection of elevated CK levels (usually in the thousands or ten thousands range) can confirm that muscle is damaged or inflamed, but cannot confirm a diagnosis of DMD.
药品
Duchenne Muscular Dystrophy
The following specialty medications are available at Accredo, a specialty pharmacy for Duchenne Muscular Dystrophy
节约护理费用
您还可获得经济援助协调服务，以承担您的部分药品费用，包括生产商和社区计划。Accredo 代表可以帮助您找到适合您的计划。
财政指导
急救性质的特殊药品很昂贵。通过此视频，了解 Accredo 团队如何帮助个人找到可以负担他们救命药品费用的方式。
查找支持
There are many organizations that support research and advocacy for Duchenne Muscular Dystrophy. 下面是其中部分组织。
Duchenne Muscular Dystrophy Organizations
政府组织
团队介绍
Accredo’s Duchenne Muscular Dystrophy team is dedicated to serving you and we understand the complexity of your condition. 我们的特殊培训临床医师每周 7 天、每天 24 小时为您提供服务，以回答您的任何问题。
我们为什么要这样做
Accredo 为慢性和复杂病症患者提供支持，并帮助他们过上最好的生活。请观看我们的视频，了解我们为什么为患者尽心尽力。