From DMD diagnosis to action: Understanding the early signs and next steps

Last updated March 3, 2025, by Agata Boxe
Fact-checked by Patrícia Silva, PhD

Recognizing the early signs of Duchenne muscular dystrophy (DMD) may help slow its progression and alleviate DMD symptoms.

DMD is a genetic condition that causes progressive muscle weakness and muscle loss that mainly affects skeletal and heart muscles. It’s much more common in boys than girls, with symptoms usually appearing at about age 2 or 3.

Over time, muscle weakness gets worse, making walking difficult. Most kids will need a wheelchair by the time they reach their teenage years.

Being able to detect the early signs of DMD can matter because it allows you to put together a care team to create a tailored DMD treatment plan for your child. Implementing it as soon as possible can help manage symptoms and slow disease progression, which may mean your child won’t lose the ability to walk as quickly.

Recognizing the early signs of DMD

Parents are often the first to notice when their child’s development is delayed. Recognizing DMD symptoms at a young age can help slow the progression of the disease and improve quality of life for your child.

You may first observe that your young child is behind others of the same age in reaching typical milestones, such as walking or talking.

Early signs of DMD include:

• difficulty walking and running
• trouble climbing stairs
• issues with clumsiness
• frequent falls
• toe walking
• waddling gait.

Children who have DMD may have enlarged calves due to problems with muscle tissue. When youngsters with DMD are getting up from a seated position on the floor, they may walk their hands up their legs — a sign called Gower’s maneuver — because their hip and thigh muscles are weak.

They may also be diagnosed with some degree of learning disability or delay.

Seeking a DMD diagnosis

If your child is not walking by 18 months, falls frequently, or has trouble standing up, speak with the pediatrician.

That doctor may refer you to a pediatric neurologist to examine your child and, if needed, recommend diagnostic assessments such as genetic testing.

Several types of tests are available to help diagnose DMD.

One blood test that can be done is the creatine kinase (CK) test, which looks at the levels of creatine kinase, or CK, an enzyme that leaks into the bloodstream when a muscle is damaged. Extremely elevated levels of the enzyme may indicate DMD. Importantly, however, the test is not definitive because high CK levels may have other causes as well.

Genetic testing for DMD can definitively confirm a DMD diagnosis by identifying the mutations that cause the disease.

In some cases, a doctor may also recommend doing a muscle biopsy to look at the inside of a muscle. This test involves surgically removing a small muscle sample, though the availability of DNA testing for DMD has almost eliminated the need for a biopsy.

These tests can cause a great deal of stress and uncertainty for you, your child, and your family. In difficult moments, it’s important to keep in mind that learning whether your child has DMD may bring you closer to a diagnosis and a roadmap to treatment.

Next steps after diagnosis

Finding out that your child has DMD can be extremely challenging and overwhelming. A trusted team of experts can support you, your child, and your family in managing DMD, and in developing a treatment plan that attempts to alleviate symptoms. Such symptoms, from muscle weakness to speech problems or delays, can be eased with varying therapies.

A DMD care team may include several specialists, from pediatric neurologists to experts in physical and occupational therapy.

• A pediatric neurologist specializes in diagnosing DMD and managing its symptoms, and will probably be the main point of contact for you and your child.
• A physical therapist can recommend exercises, usually involving stretching, to prevent contractures, which are permanent tightening of the muscles, tendons, and skin.
• An occupational therapist can help your child with doing daily activities such as eating and getting dressed, and also can recommend adaptive equipment, such as modified utensils and dressing aids.
• A cardiologist can monitor your child’s heart health, regulating the impact that DMD can have on heart muscles.
• A speech therapist can help with potential speech difficulties or delays stemming from the weakening of muscles involved in speaking.
• A nutritionist or registered dietician can recommend a nutrition plan to ensure that your child is getting all the nutrients needed to support muscle health.

Your child’s care team will put together a treatment plan, which may include occupational and physical therapy, as well as possible surgery. Surgery may be recommended for severe contractures and scoliosis, which causes a curvature of the spine common with DMD.

Doctors also may prescribe medication to address any progressive loss of muscle strength, and to slow the progression of cardiomyopathy, a condition that weakens the heart muscle and affects its ability to pump blood.

The care team may also recommend mobility aids such as braces, canes, walkers, wheelchairs, and motorized scooters.

Supporting your child

If your child is diagnosed with DMD, you will likely play an important role in managing the disease and its symptoms, especially when your child is young. Along with supporting your child’s direct needs, you may be checking that your youngster follows the recommendations of the care team, and providing a source of emotional comfort. You also may want to adapt your home to better accommodate your child’s physical needs.

Helping your youngster follow the recommendations of the care team is an important part of supporting your child. You may need to adjust your approach based on your child’s age and other factors such as the child’s level of dexterity. For example, if your child is prescribed medication, you’ll want to make sure it’s taken regularly by setting up reminders on your (or the child’s) phone,  or with a smart home assistant device.

Children, especially younger ones, may find it annoying or unpleasant to have to take daily medication. Consider creating a reward system, such as earning stickers when your child correctly follows the set treatment routine.

A nutritionist or registered dietician may recommend a special diet for your child, such as one with a specific amount of protein to help in maintaining muscle mass and counteracting muscle loss.

The right diet may also counter the effect that certain medications, such as steroids, have on your child’s weight and bone health. You might request kid-friendly recipes, especially if your child is a picky eater, and do your best to get your youngster to follow the recommended diet plan.

Adapting the home environment to the child’s DMD diagnosis is another way parents can support their child’s independence as they get older while also protecting their safety. Safety measures should be considered for each room where the child spends time:

• Install handrails and grab bars where needed to help your child sit down and stand up.
• Clear pathways of potential tripping and slipping hazards by moving furniture closer to the walls and removing small rugs, carpets, clutter, power cords, and other obstacles.
• Place corner protectors on furniture with sharp edges to prevent bruises and cuts from falls.
• Get a shower chair for use in the bathroom, or, if possible, install a walk-in bathtub or shower.
• Lower countertops and cupboards to make it easier for your child to get items from the kitchen.
• Consider smart technology, such as smart lights that can be operated remotely, to reduce your child’s dependence on physical assistance with routine tasks.
• Consult an occupational therapist about what kind of adjustments to make to your child’s home and school environments, such as determining the best type of seating.

Finally, try to support your child in dealing with the emotional aspects of a DMD diagnosis. For children, this can involve fear, confusion, and grief over the loss of some abilities, such as walking, running, or playing sports.

Because of the toll living with DMD can take on mental health, consider finding a counselor for your child, ideally one who has experience in working with kids who have chronic health conditions. You can start by asking your child’s neurologist for recommendations.

Resources for parents

Learning that your child has DMD can be difficult to process. You may worry about how living with the condition will affect your child’s life and future, and the family as a whole. Finding sources of support for you as a parent, through mental health counseling and support groups, can help you nurture your inner strength.

The more you build your emotional resilience, the better you will feel, and the more you can support your child in navigating life with DMD.

Caring for a child with DMD can be mentally and physically exhausting, causing you to feel stressed and overwhelmed. Talking to a therapist is a good idea, as these health professionals can recommend how to manage the potential impact on your mental health.

If possible, take regular, scheduled time off from caregiving. Ask friends or family to look after your child for a few hours every week. Replenish your energy levels by doing what you like, whether that’s watching a movie, having lunch with friends, or taking a long nap.

Incorporating smaller breaks into your daily routine — to meditate or just do nothing for a few minutes  — can be another important part of your self-care plan.

Joining a support group for caregivers and families of kids with DMD can be a source of comfort, connection, and camaraderie. Such groups are available in person and virtually.

DMD groups include:

• the Muscular Dystrophy News Today Facebook group
• the Parent Project Muscular Dystrophy’s local peer support groups
• the Duchenne Family Support Group in the U.K., which connects DMD families.

The forums on Muscular Dystrophy News Today are another way to learn more about the disease and connect with others in the DMD community.

Muscular Dystrophy News is strictly a news and information website about the disease. It does not provide medical advice, diagnosis, or treatment. This content is not intended to be a substitute for professional medical advice, diagnosis, or treatment. Always seek the advice of your physician or other qualified health provider with any questions you may have regarding a medical condition. Never disregard professional medical advice or delay in seeking it because of something you have read on this website.