Duchenne | and you

Dealing With the Diagnosis


If your child or young person DOES have DMD:

Resources and therapies are available to help manage symptoms and possibly slow down the progression of the condition.

If your child or young person DOES NOT have DMD:

Your doctor will do more investigations into what else could be causing symptoms.
Different genetic tests can also tell your doctor about the type of mutation your child or young person has.This is important because different resources and therapies are available to manage different mutations.

How genetic counseling can help

What is a genetic counselor?

Genetic counselors are professionals who can help guide you through genetic tests and explain how the results might affect you or your family. They also provide you with emotional support and the resources to help you cope in the long term.

What can a genetic counselor do for me?

They will answer any questions you have about Duchenne muscular dystrophy (DMD) and what it means for your family.

They will help determine the best testing strategy for your child or relative.

They will help you make sense of the results and discuss the best course of action.

They will help you and your family cope with a positive test result.

Talking to a family member about genetic testing

Deciding whether to talk to your family members about a genetic diagnosis is a very personal decision.
But you are not alone—your counselor can help you make many key decisions.
A genetic counselor can help you:

  • Work out which family members to talk to
  • Understand the benefits and drawbacks of telling your family about DMD
  • Decide when and how to tell your family about DMD
  • Prepare what to say and decide what information you should share
  • Anticipate and prepare for any questions they might ask
  • Deal with any difficult emotions

Deciding whether to get prenatal genetic testing

Prenatal tests can be carried out during pregnancy to try to find out whether the developing baby is affected by Duchenne muscular dystrophy (DMD).

This information may be useful for two reasons:

  • If the developing baby has DMD, you can decide whether or not to continue the pregnancy
  • Early diagnosis and management of DMD has been shown to improve outcomes and can also provide families with earlier access to care and support

Who should get prenatal testing?

If you have a child or relative with DMD, you may be eligible for prenatal diagnoses in future pregnancies. Once you have the results, you can talk with a genetic counselor about what the results mean for your family. To find out more about prenatal testing and whether or not you are eligible, speak to your doctor.

Free genetic testing available

You can learn more about genetic testing for DMD at Decoding Duchenne– a testing program run by Parent Project Muscular Dystrophy.


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Date of preparation: September 2022

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.