Duchenne Muscular Dystrophy (DMD) Symptoms
Updated on April 21, 2026
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The most commonly diagnosed form of muscular dystrophy, Duchenne is a genetic disease that affects mostly boys and causes progressive muscle weakness over time. Its early physical signs tend to be noticed when a child is 2 to 4 years old, but the condition may also be detected earlier or later than this.
While Duchenne muscular dystrophy, or DMD, affects muscles throughout the body, its early signs are usually seen in the skeletal muscles — those associated with movement. As they get older, most children with Duchenne eventually lose the ability to walk. The disease can also take a toll on the heart and muscles associated with breathing.
While Duchenne in girls is extremely rare, a girl who has a genetic mutation that causes Duchenne on one of her X chromosomes sometimes may have symptoms that are similar to but generally milder than those seen in boys. Girls with the mutation are also at risk of heart problems later in life.
Symptoms of Duchenne Muscular Dystrophy
Duchenne can cause a range of symptoms, including some that don’t seem directly connected to muscle function. While it usually isn’t diagnosed until a child is at least 2 years old, certain signs of the condition may appear even before this, although they can be difficult to recognize.
Muscle Weakness and Movement Problems
The main symptom of DMD is muscle weakness, which causes trouble with movement. Children with the condition may have:
- Delay in learning to sit up or stand
- Trouble running or jumping
- A tendency to walk on tiptoe
- Frequent falls
- Less muscle mass
- A “waddling” style of walking
Another telltale sign of Duchenne is abnormally large calf muscles, a development known as pseudohypertrophy. The enlarged area isn’t normal muscle tissue but may contain scar tissue or fat.
Most children with Duchenne need help walking by age 8 or 9 and typically need to use a wheelchair by age 12.
Cognitive and Behavioral Symptoms
The same protein that’s missing in muscle cells in DMD, called dystrophin, also plays a role in certain brain functions. This is believed to account for cognitive problems seen in about one-third of children with Duchenne, which can include:
- Delay in learning to talk
- Trouble reading and writing
- Poor impulse control
- Attention problems
- Learning disabilities
Behavioral and language difficulties caused by Duchenne lead many boys to be diagnosed with attention deficit hyperactivity disorder or autism spectrum disorder.
Heart and Respiratory Symptoms
While they don’t tend to cause noticeable symptoms early on, heart and breathing problems develop over time in everyone with Duchenne. By their late teenage years, children with Duchenne will usually have heart structure problems called cardiomyopathy, which reduces the heart’s ability to pump blood.
Breathing difficulties develop in Duchenne because of weakened muscles, eventually requiring some form of respiratory support like using a bilevel positive airway pressure (BiPAP) machine at night.
Other Symptoms
In addition, children with Duchenne may have:
- Fatigue
- Stiff joints
- Curved spine
- Increased risk of broken bones
- Digestive problems including diarrhea and constipation
Potential Complications of Duchenne Muscular Dystrophy
Heart and breathing problems are the most common complications of Duchenne. But the disease and medications used to treat it, such as corticosteroids, can lead to other health problems including:
- Lung infections
- Obesity
- Trouble swallowing
- Delayed puberty
- Bite problems
Emergency complications can include rhabdomyolysis, in which the breakdown of muscle tissue happens so rapidly that chemicals from muscle cells flood the bloodstream — potentially causing kidney damage, or even kidney failure and death. This can happen because of too much physical activity, dehydration, or as a side effect of a certain type of anesthesia. Rhabdomyolysis may cause muscle aches and very dark urine, and is treated with aggressive intravenous fluid infusion.
It’s rare, but people with Duchenne are more at risk for a blood vessel blockage called fat embolism syndrome. Just as the disease causes fat particles to replace muscle tissue, they can also accumulate in the central hollow cavity inside bones. If your child has a fracture, a fat particle can get into their bloodstream and cause a stroke or a pulmonary embolism — both of which can be deadly, especially if not treated promptly. After a broken bone, get emergency help if you notice your child has trouble breathing, headache, excessive sleepiness, confusion, or agitation.
When to See a Doctor
DMD is very rare, affecting just 1 in 3,500 people worldwide. But if you notice any of these early signs, you should discuss them with your child’s pediatrician:
- Developmental delays
- Slower growth
- Weak muscles
- Lifting themselves up from the ground with their arms instead of their legs
- Walking on tiptoe
- Other movement problems
- Crawling or walking with a swayed back
A child with DMD will need regular checkups to watch for progression and monitor their treatment, but make an appointment if you notice new or worsening symptoms.
Resources We Trust
- Cleveland Clinic: Duchenne Muscular Dystrophy
- National Organization for Rare Disorders: Duchenne Muscular Dystrophy
- Muscular Dystrophy Association: Duchenne Muscular Dystrophy
- Stanford Medicine Health Care: Symptoms of Duchenne Muscular Dystrophy
- Parent Project Muscular Dystrophy: What Is Duchenne? Progression
EDITORIAL SOURCES
Everyday Health follows strict sourcing guidelines to ensure the accuracy of its content, outlined in our editorial policy. We use only trustworthy sources, including peer-reviewed studies, board-certified medical experts, patients with lived experience, and information from top institutions.
Resources
- Duchenne Muscular Dystrophy (DMD). Cleveland Clinic. June 27, 2025.
- Duchenne Muscular Dystrophy (DMD). Muscular Dystrophy Association. May 2025.
- Duchenne Muscular Dystrophy in Children. Cedars Sinai.
- Duchenne Muscular Dystrophy. Genetic and Rare Diseases Information Center. February 2026.
- What Is Duchenne? Signs and Symptoms. Parent Project Muscular Dystrophy.
- Duchenne Muscular Dystrophy. National Organization for Rare Disorders. July 15, 2024.
- Rathore G. Duchenne Muscular Dystrophy (DMD). Child Neurology Foundation. November 2021.
- Growth and Puberty. Parent Project Muscular Dystrophy.
- Dental. Parent Project Muscular Dystrophy.
- Rhabdomyolysis. Parent Project Muscular Dystrophy.
- Fat Embolism Syndrome. Parent Project Muscular Dystrophy.
- Venugopal V et al. Duchenne Muscular Dystrophy. StatPearls. July 10, 2023.
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