A diagnosis of Duchenne (due-SHEN) muscular dystrophy can feel overwhelming. You may have questions about what the diagnosis means, what treatments are available and what to expect in the future.
At Banner Health, our neurology and neuromuscular specialists work with you and your family to create a treatment plan that fits your unique needs. We’ll help you understand the diagnosis, manage symptoms and plan for every stage of care.
Duchenne muscular dystrophy is a rare genetic neuromuscular disease that affects muscles and nerves needed for movement. It is one of the most common and severe types of muscular dystrophy.
Sometimes called DMD or Duchenne’s, kids with this condition do not produce a working or functional version of a protein called dystrophin. Dystrophin helps keep muscle cells strong and protects them during everyday activities. Every time muscles contract during activities like walking, running or climbing stairs, dystrophin helps protect muscle fibers from damage.
Without this protein, muscles are injured more easily. Over time, the damaged muscle tissue is replaced with fat and scar tissue, making muscles weaker. It can affect mobility, heart function and breathing.
DMD usually begins in early childhood, between ages 2 and 5. It mostly affects boys because of how it is inherited.
Girls can be carriers and may have mild symptoms. In rare cases, they can develop serious heart problems, so regular heart screenings are important.
Learn more about muscular dystrophy.
Duchenne muscular dystrophy is caused by a change in a gene called DMD, which makes a protein called dystrophin. This gene is found on the X chromosome. Because only boys have one X chromosome, they are more often affected by Duchenne.
Duchenne can be inherited, meaning it can be passed from parents to children. Sometimes, the gene change happens randomly in a child with no family history. This means anyone, regardless of race or culture, can develop Duchenne.
After a diagnosis, many families choose to meet with a genetic counselor. Genetic counseling can help you:
The first signs of Duchenne may appear as early as a few months of age, but more noticeable signs usually emerge around age 2 or 3. Common signs include:
Because DMD is a progressive disease, muscle weakness becomes worse over time. Every child follows a different path, but many experience similar stages as they grow.
Children often start having problems with activities that require strength and balance. They might walk later than usual, fall often or have trouble running, climbing stairs or getting up from the floor.
As children grow, muscle weakness usually becomes more noticeable. They might get tired more easily, need braces or walking aids for longer distances and benefit from school accommodations to help them participate in daily activities.
Some children also develop tight muscles, changes in posture or scoliosis, all of which need regular check-ups.
Most people with Duchenne will eventually need a power wheelchair to help with mobility. The muscles that control breathing and the heart, itself, also get weaker over time, so regular check-ups with heart and lung doctors are very important.
Thanks to new medicines and better care, people with Duchenne’s are living longer than before. Many continue their education, have careers and enjoy relationships while still getting ongoing medical care.
Your health care provider will do a physical, neurological and muscle exam. They’ll also ask about symptoms and medical history.
If your doctor suspects Duchenne's, you may be referred to a pediatric neurologist or neuromuscular specialist. These specialists can order tests to confirm the diagnosis and connect your child with other members of a DMD care team.
Test used to confirm a diagnosis include:
Some children may need additional tests to better understand how DMD is affecting their muscles and overall health. These may include:
Learn more about diagnosing and treating muscular dystrophy.
Although there is currently no cure, treatment for DMD has improved. Early, ongoing care can help slow its progression, manage symptoms and improve quantity and quality of life.
DMD affects the whole family. Care often includes planning for daily routines, school, mobility, emotional support and long-term health needs.
Depending on you or your child’s needs, care may include:
Research on Duchenne muscular dystrophy continues to advance. Some children may be eligible for clinical trials or newer therapies based on their age, overall health and specific genetic change.
Your care team can explain whether approved treatments or research opportunities may be appropriate. Every treatment plan is personalized and not every therapy is right for every person.
Thanks to advances in treatment and supportive care, people with Duchenne are living longer than ever before. As children become teenagers and young adults, their health care needs continue to change. Planning ahead helps ensure they continue receiving the specialized care they need.
Adult care may include ongoing:
Starting this transition early helps young adults build independence while maintaining continuous, coordinated care. At Banner Health, we help families transition from pediatric providers to adult specialists who understand the unique challenges of living with Duchenne muscular dystrophy.
Talk to your child's health care provider if you notice signs of muscle weakness or delays in motor development. They may refer you to a neuromuscular specialist for testing, diagnosis and treatment.
A neuromuscular specialist is a doctor who treats conditions that affect the muscles and the nerves that control them. They can also help monitor your child's muscle strength and overall health.
A neuromuscular evaluation may be recommended if your child has:
Call 911 or go to the nearest emergency room if you or a loved one has:
Living with Duchenne requires specialized care that evolves over time. At Banner Health, we use a team-based approach to help children, teens and adults receive the right care.
We offer:
Whether your child has recently been diagnosed or has been living with DMD for years, we're here to help your family navigate the journey with compassionate, coordinated care.
Make an appointment today.
Duchenne muscular dystrophy is a genetic disease that makes muscles weaker over time. It usually starts in early childhood and can affect walking, heart function and breathing as it progresses.
Early signs may include walking later than expected, falling often, having trouble running or climbing stairs, toe walking, bigger calf muscles or trouble getting up from the floor.
DMD happens because of a change in genes that affects a protein called dystrophin. This protein helps keep muscles strong. When there isn't enough dystrophin, muscles get damaged and weaker over time.
DMD can be passed from parents to children but it can also happen due to a new gene change with no known family history. Genetic tests and counseling can help families understand their risks.
Doctors may examine the body, do blood tests like CK testing and perform genetic tests. Heart and lung tests might also be used to check overall health.
There is no cure yet. But treatments can help relieve symptoms, slow down the disease and support mobility, breathing, heart health and quality of life.
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