What is Duchenne Muscular Dystrophy?
Duchenne Muscular Dystrophy — often called DMD — is a rare genetic condition that affects the muscles. It occurs almost exclusively in boys. It is caused by a fault in a gene called the dystrophin gene, which normally helps muscles stay strong and intact. When this gene does not work correctly, the muscles gradually weaken over time.

DMD is the most common form of muscular dystrophy in children. It affects approximately 1 in every 3,500 to 5,000 boys born worldwide. In India, it is estimated that more than half a million boys are living with this condition — though the true number may be higher due to underdiagnosis.
Early signs to watch for
Symptoms usually become noticeable between the ages of 2 and 5. Because these early signs can be subtle, many families wait years before receiving a correct diagnosis. If you notice any of the following in your son, please speak with a pediatric neurologist as soon as possible.
  • 01
    Frequent falls
    Children with DMD fall more often than their peers. They may also find it hard to run, jump, or keep up with other children during play.
  • 02
    Difficulty getting up from the floor
    A child with DMD often uses their hands to "walk up" their own legs when rising from a sitting or lying position. This is called Gower's sign and is a classic early indicator.
  • 03
    Enlarged calf muscles
    The calves may appear unusually large and firm. This is because weakened muscle tissue is replaced by fat and connective tissue, giving a misleading appearance of strength.
  • 04
    Difficulty climbing stairs
    Climbing stairs may require significant effort. The child may hold the railing with both hands or need help from an adult.
  • 05
    Walking on toes
    Children with DMD often walk on their toes rather than with a flat foot. This is caused by tightening of the calf muscles.
  • 06
    Delayed walking milestones
    Some children with DMD begin walking later than expected, though many walk at a normal age and develop noticeable symptoms only around age 3 to 5.
How is it diagnosed?

If DMD is suspected, the first step is a simple blood test to measure the level of an enzyme called Creatine Kinase (CK). In boys with DMD, CK levels are typically 10 to 100 times higher than normal. This is not painful and can be done at any pathology lab.

A genetic test is then done to confirm the diagnosis and identify the specific mutation. This is important because the type of mutation determines which treatments and clinical trials a child may be eligible for.

If you are unsure whether to get your son tested, please write to us. We can help you find the right specialist in your city.

How does DMD progress?

DMD is a progressive condition. Over time, the muscles throughout the body gradually weaken. In most cases, boys become wheelchair-dependent in their early teens. As the condition progresses, it can affect the muscles of the heart and lungs, which requires careful monitoring and management.

However — and this is important — the progression of DMD varies significantly between individuals. With the right care, including steroids, physiotherapy, cardiac monitoring, and respiratory support, many young men with DMD are living longer, fuller lives than ever before.