How to Recognize the Symptoms of Duchenne Muscular Dystrophy

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Last Updated: November 2, 2025 References

Duchenne muscular dystrophy is an inherited genetic (X-linked recessive) disorder that causes muscular weakness over time. This condition primarily affects males, and the symptoms start in early childhood. It is the most common type of muscular dystrophy, and there is no cure for it. ^{[1]
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Go to source} Even though there isn't a cure for this condition, recognizing the symptoms early on can make it easier to treat and to slow its progression.

Part 1

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Recognizing Common Symptoms

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These are the commonly noticed symptoms of DMD in young children between 3 and 6 years old.

1
See if your child has difficulty moving around. The average age at which a baby starts to walk is 12 months, but it is normal for babies between the ages of 9-17 months to fully learn how to walk. If your child does not walk by 18 months, it may indicate that your child has a motor delay. This is likely to be the case if your child reached other milestones, like crawling or standing, later. Similarly, if you notice your child being unable to walk, run, or go up stairs when they previously could before, that is a concerning sign. Other motor skills that may be affected in your child's early years include: ^{[2]
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- Jumping
- Tip-toeing
- Standing up from a sitting position
2
Pay attention to how many times your child falls down. Children sometimes fall down when they are playing, which is normal. Kids with DMD fall very often, so people frequently describe them as "clumsy". If your child seems to fall down every day or falls when doing regular tasks like walking, that could be a symptom of DMD.

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3
See how your child gets up from a sitting position. A key symptom of muscle weakness in the core muscles is the Gowers' sign. Since Duchenne muscular dystrophy affects the muscles closest to the torso first (the back and thighs), kids with this condition have trouble squatting, jumping, or standing up. Instead of using their thigh muscles to stand up, kids put their hands on the floor to push themselves to an upright position. ^{[4]
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4
Check your child's calf muscles. Kids with DMD have large calf muscles compared to the rest of their body. This is not because their calves are stronger; this is due to connective tissue and fat replacing the weakened, damaged muscles, making them look larger.
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Pay attention to how your child walks. Children with DMD tend to walk on their toes instead of walking heel-to-toe. Children do this to compensate for their weak leg muscles, which prevents them from balancing if they walk normally. Toe-walking makes it easier for kids affected with Duchenne muscular dystrophy to move around.
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Notice if your child has any learning difficulties. Some children with Duchenne muscular dystrophy also display signs of learning disabilities. They may take longer or have trouble talking, reading, or writing. ^{[5]
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Part 2

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Getting a Diagnosis

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1
Take your child to visit their pediatrician or primary doctor. They can assess if your child shows multiple characteristics of Duchenne muscular dystrophy, but they will not make the diagnosis alone. Usually, a pediatric neurologist or neuromuscular specialist will determine if your child has this condition.
2
Get a blood test. Doctors often order a type of blood test called a CK level. CK stands for creatine kinase, an enzyme found in muscle cells used for energy. ^{[6]
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Research source} Abnormally high levels of creatine in the blood can signal DMD. ^{[7]
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Research source} This is because a lack of dystrophin in the muscles makes them weaker, causing muscle tissue to tear even with normal amounts of movement or exercise. Creatine leaks out of the muscle tissue into the bloodstream, causing high levels of the enzyme in DMD patients.
3
Get a muscle biopsy. This is when doctors remove a small piece of muscle by incision or through a needle and take it to a laboratory for testing. Lab technicians can identify if there is a lack of dystrophin in the selected muscle tissue, allowing doctors to diagnose Duchenne muscular dystrophy. ^{[8]
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4
Get genetic testing. Testing includes checking a person's DNA to find if there is a mutation in the DMD gene. This causes the muscle protein dystrophin not to be produced. ^{[9]
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Go to source} Through testing, you can find out if parts of the gene were duplicated or deleted, causing the genetic mutation. Additionally, you can get tested yourself to check if you are a carrier of this condition.
- If your family has a history of DMD, it is more likely for your child to get it.
- However, a small portion of DMD cases happen spontaneously (even without being inherited), meaning the gene has been randomly mutated. ^{[10]
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- Females of a family can be carriers for this condition.