Duchenne Muscular Dystrophy
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.
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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 it 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.
Duchenne muscular dystrophy
The following specialty medications are available at Accredo, a specialty pharmacy for Acute Hepatic Porphyria .
|Emflaza® (deflazacort)||PTC Therapeutics/PTC Cares|
Financing Your Care
Financial assistance is available to support your drug costs including manufacturer and community programs. Accredo specialists are available to assist in finding the right program(s) for you.
Life-saving specialty medication can be expensive. Learn how the Accredo teams help individuals find ways to afford the medication they need to survive in this video.
There are many organizations that support research and advocacy for Duchenne Muscular Dystrophy. See below for a few of those organizations.
- National Organization for Rare Disorders |
- Muscular Dystrophy Association |
- Cure Duchenne
- Parent Project Muscular Dystrophy
Meet the Team
Accredo’s Duchenne Muscular Dystrophy team is dedicated to serving you and we understand the complexity of your condition. Our specialty-trained clinicians are available 24 hours a day, seven days a week, to answer any questions.
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