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How Do You Know It’s Duchenne Muscular Dystrophy (DMD)?

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Only a doctor can make a DMD diagnosis. There are a specific set of steps the doctor will go through that will help them tell whether a patient has DMD.

Doctors will look at:

  • Signs and symptoms of DMD
  • Results of a blood test for an enzyme called creatine kinase (CK)
  • The fact that not everyone with raised CK levels has DMD
  • Genetic testing

 

Your doctor may also talk to or consult with a specialist, to confirm their decision.

Often, it’s a parent or other adult that brings the signs and symptoms of DMD to a doctor’s attention.

Keep reading to learn more about the signs of DMD in children.

Knowing the signs and symptoms of DMD can help catch the disease early and help an affected child get the help they need.

General pediatricians are a first point of contact for concerned parents and can help drive a successful diagnostic journey

Recognizing red flag signs and symptoms:

Other signs and symptoms:

  • Weakness and muscle tissue wasting
  • Emotional/behavioral challenges (depression; angry or argumentative behavior)
  • Problems with learning and memory
  • Delayed speech
  • Neurological and mental health disorders (attention deficit/hyperactivity disorder, anxiety, autism spectrum disorder, epilepsy)
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The information on this site is not intended to make a diagnosis or to take the place of talking to a US health care professional.

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Date of preparation: September 2022
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Terms and conditions

Important Terms and Concepts

Basic terms and key definitions

Neuromuscular disorders

Neuromuscular disorders affect the muscles and nerves, and most of the causes are genetic. This means they are either passed down through the family or caused by changes in an individual person’s genes.

Most neuromuscular disorders cause muscle weakness that worsens over time. Signs and symptoms of neuromuscular diseases can vary and may be mild, moderate, or severe.

Most often, when a child has a neuromuscular disease, they don’t grow and develop as fast as other children their age. They are often slow to start lifting their head, sitting, walking, and talking.

Treatment and supportive care may improve the symptoms of a neuromuscular disorder, increasing mobility and even life expectancy.

Muscular dystrophy

Muscular dystrophy is the term for a group of neuromuscular disorders that cause muscle weakness and muscle loss.

Duchenne muscular dystrophy (DMD) is a type of muscular dystrophy that causes muscle weakness that worsens over time. The progression and symptoms can vary from person to person.