Duchenne muscular dystrophy (DMD) is a rare genetic disease. It primarily affects males, but, in rare cases, can also affect females. Duchenne causes the muscles in the body to become weak and damaged over time and is eventually fatal. The genetic change that causes Duchenne — a mutation in the DMD gene — happens before birth and can be inherited, or new mutations in the gene can occur spontaneously.
Duchenne is caused by a genetic mutation that prevents the body from producing dystrophin, a protein that muscles need to work properly. Without dystrophin, muscle cells become damaged and weaken. Over time, children with Duchenne will develop problems walking and breathing, and eventually the muscles that help them breathe and the heart will stop working. Duchenne is an irreversible, progressive disease. There is currently no cure for Duchenne.
The first signs and symptoms of Duchenne are often noticed around the age of 2 or 3. Children with Duchenne may be slower to sit, stand or walk. Most are unable to run and jump properly due to weakness in the core muscles of the body. Common signs and symptoms of Duchenne you may notice include:
You'll often hear Duchenne muscular dystrophy (DMD) and Becker muscular dystrophy (BMD) spoken about together. BMD is another type of muscular dystrophy with symptoms like Duchenne, but it is a milder form. BMD is also caused by a change to the gene for dystrophin, but people with BMD make an abnormal but working version of dystrophin. This still results in muscle weakness and damage, but it is less severe and worsens more slowly than in Duchenne.
A Duchenne muscular dystrophy diagnosis is a lot to absorb and can be emotionally overwhelming. There are a variety of resources to help. In addition to speaking with your child's doctor about next steps, there are national and local advocacy and parent organizations with a wealth of information.
Finding the right doctor for your needs is critical, and only you can decide who is the right fit for your family. Some places to start include:
Contact JAR of Hope. James@jarofhope.org
Yes. The University of Massachusetts has a Duchenne clinic. Children’s Hospital of Cincinnati. Nationwide Children’s Hospital are just a few, to find one in your area please reach out to james@jarofhope.org
How often your child visits the doctor depends on his individual needs and stage of disease. Your child's doctor will be able to help you create a care plan, and better understand the overall time commitments.
A care plan is an agreement between you and your child's doctor to help manage the disease on a day-to-day basis. This document walks you through the different stages of Duchenne, and things you should consider in terms of care for your child during each stage.
For more information, or to find out what Hyper-Genetics can do for you, call us at 732-414-6670.
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