Duchenne | and you

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)

When is the Right Time to Talk to a Doctor?

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Helping your doctor reach a diagnosis

Take these three steps to prepare for the doctor’s visit and help them determine whether it is DMD or another condition;

Helping your doctor reach a diagnosis

Understanding your family’s history of muscle disease and other conditions can help your doctor reach a diagnosis.

Keep a journal of your child’s or young person’s symptoms

Write down any symptoms you have noticed. You may use the doctor’s appointment discussion guide.

Take photos or videos

Bring photos or videos to help your doctor gain a better understanding of the signs and symptoms you have observed.

How early diagnosis helps kids with DMD

The earlier a doctor makes a diagnosis, the sooner a child with DMD can start getting medical care and treatment. Getting care early gives doctors the best chance of slowing down the disease and helping to preserve muscle function for as long as possible.

Early diagnosis means that a child with DMD may receive important help sooner:

  • Accessing specialist clinics and doctors
  • Starting treatment
  • Testing for family members to find out the risk of DMD in any future pregnancies
  • Getting genetic counseling
  • Applying for financial assistance
  • Planning for home care
  • Enrolling in clinical trials of new treatments
  • Receiving support from local patient organizations, and connecting with other affected families

What Will the Doctor Do to Diagnose DMD?

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How DMD is diagnosed

Confirming signs and symptoms

If Duchenne muscular dystrophy (DMD) is suspected, the first thing your family doctor will do is perform a physical exam to check for muscle weakness. They will also ask about delays in early developmental milestones, such as sitting, walking, and standing up from the floor.

Performing a blood test

Your doctor will usually recommend a special blood test called a creatine kinase (CK) test. This involves taking a small sample of blood, which will be sent to a lab for analysis. If your child or young person has high CK levels, another sample of blood may be taken to test for changes in genes (called mutations) that cause DMD.

Referring a specialist

If your doctor becomes concerned that your child or young person needs further testing, they will usually refer them to a neuromuscular specialist. The specialist will then work to identify the cause of the symptoms and may recommend genetic testing.

Genetic testing

Genetic testing is the only way to confirm a DMD diagnosis. It can also identify the specific genetic cause of the individual’s DMD to help narrow down treatment options, qualify a patient to participate in a clinical trial and check whether an individual is a Duchenne gene carrier, so appropriate steps can be taken.

What is a CK test?

A CK test checks for an enzyme called creatine kinase, or CK. When muscle fibers are damaged, CK leaks out into the bloodstream. The muscle damage caused by DMD means that the level of CK in the blood will often be higher than normal. 

High CK levels in the blood do not automatically mean that your child or young person has DMD. Genetic testing is the only way to confirm a DMD diagnosis.

The following no-cost testing programs are available:

Decode Duchenne provides no-cost genetic testing, interpretation, and counseling through PPMD and PerkinElmer.

https://www.parentprojectmd.org/about-duchenne/decode-duchenne/diagnostic-testing/

Detect MD provides no-cost genetic testing, interpretation, and counseling through Invitae.

https://www.invitae.com/en/detect-muscular-dystrophy/

Dealing With the Diagnosis

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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.

    References

    Birnkrant DJ, et al. Lancet Neurol. 2018;17:251–267 [Part 1].

    Noritz GH, et al. Pediatrics. 2013;131:e2016–e2027.

    Lurio JG, et al. Am Fam Physician. 2015;91:38–44.

    Guide for primary care providers. National Task Force for Early Identification of Childhood Neuromuscular Disorde https://childmuscleweakness.org/wp-content/uploads/2019/05/PrimaryCareProviderPacket.pdf. Accessed March 2021.

    Mah JK. Neuropsychiatr Dis Treat. 2016;12:1795–1807.

    Guide for primary care providers. National Task Force for Early Identification of Childhood Neuromuscular Disordehttps://www.mda.org/sites/default/files/2020/10/MDA_DMD_Fact_Sheet_Oct_2020.pdf. Accessed March 2021.

    Mah JK. Neuropsychiatr Dis Treat. 2016;12:1795–1807.

    Aartsma-Rus A, et al. J Pediatr. 2019;204:305–313.e4.

    Birnkrant DJ, et al. Lancet Neurol. 2018;17:251–267 [Part 1].

    Patient and parent stories. Duchenne UK. Available at https://www.duchenneuk.org/Pages/Category/parent-stories. Accessed March 2021.

    Assistance fund opens program to help Duchenne patients with medical expenses. Muscular Dystrophy News https://musculardystrophynews.com/10/28/assistance-fund-offers-duchenne-muscular-dystrophy-patients-help-with-medical-expenses/. Accessed March 2021.

    Aartsma-Rus A, et al. J Pediatr. 2019;204:305–313.e4.

    Aartsma-Rus A, et al. J Med Genet. 2016;53:145-151.

    Andropoulos DB. Appendix B: Pediatric normal laboratory values. In: Gregory GA, Andropoulos DB, eds. Gregory’s Pediatric Anesthesia. 5th ed. Wiley Online Library. Accessed on September 28, 2021.https://onlinelibrary.wiley.com/doi/ abs/10.1002/9781444345186.app2

    Birnkrant DJ, et al. Lancet Neurol. 2018;17:251–267 [Part 1].

    Ciafaloni E, et al. J Pediatr. 2009;155:380-385.

    Lurio JG, et al. Am Fam Physician. 2015;91:38-44.

    Noritz GH, et al. Pediatrics. 2013;131:e2016–e2027.

    Bianco B, et al. Einstein (Sao Paulo). 2017;15:489–491.

    Birnkrant DJ, et al. Lancet Neurol. 2018;17:251–267 [Part 1].

    Helderman-van den Enden ATJM, et al. Clin Genet. 2011;79:236–242.

    Institute of Medicine (US) Committee on Assessing Genetic Risks; Andrews LB, et al., editors. Assessing genetic risks: implications for health and social policy. Washington, DC: National Academies Press (US); 1994: 4. Issues in genetic counseling. Available at https://www.ncbi.nlm.nih.gov/books/NBK236049/ [last accessed March 2021].

    Parent Project Muscular Dystrophy. Genetic counseling. Available at https://www.parentprojectmd.org/about-duchenne/is-it-duchenne/genetic-counseling/ [last accessed March 2021].

    References

    Birnkrant DJ, et al. Lancet Neurol. 2018;17:251–267 [Part 1].

    Noritz GH, et al. Pediatrics. 2013;131:e2016–e2027.

    Lurio JG, et al. Am Fam Physician. 2015;91:38–44.

    Guide for primary care providers. National Task Force for Early Identification of Childhood Neuromuscular Disorde https://childmuscleweakness.org/wp-content/uploads/2019/05/PrimaryCareProviderPacket.pdf. Accessed March 2021.

    Mah JK. Neuropsychiatr Dis Treat. 2016;12:1795–1807.

    Guide for primary care providers. National Task Force for Early Identification of Childhood Neuromuscular Disordehttps://www.mda.org/sites/default/files/2020/10/MDA_DMD_Fact_Sheet_Oct_2020.pdf. Accessed March 2021.

    Mah JK. Neuropsychiatr Dis Treat. 2016;12:1795–1807.

    Aartsma-Rus A, et al. J Pediatr. 2019;204:305–313.e4.

    Birnkrant DJ, et al. Lancet Neurol. 2018;17:251–267 [Part 1].

    Patient and parent stories. Duchenne UK. Available at https://www.duchenneuk.org/Pages/Category/parent-stories. Accessed March 2021.

    Assistance fund opens program to help Duchenne patients with medical expenses. Muscular Dystrophy News https://musculardystrophynews.com/10/28/assistance-fund-offers-duchenne-muscular-dystrophy-patients-help-with-medical-expenses/. Accessed March 2021.

    Aartsma-Rus A, et al. J Pediatr. 2019;204:305–313.e4.

    Aartsma-Rus A, et al. J Med Genet. 2016;53:145-151.

    Andropoulos DB. Appendix B: Pediatric normal laboratory values. In: Gregory GA, Andropoulos DB, eds. Gregory’s Pediatric Anesthesia. 5th ed. Wiley Online Library. Accessed on September 28, 2021.https://onlinelibrary.wiley.com/doi/ abs/10.1002/9781444345186.app2

    Birnkrant DJ, et al. Lancet Neurol. 2018;17:251–267 [Part 1].

    Ciafaloni E, et al. J Pediatr. 2009;155:380-385.

    Lurio JG, et al. Am Fam Physician. 2015;91:38-44.

    Noritz GH, et al. Pediatrics. 2013;131:e2016–e2027.

    Bianco B, et al. Einstein (Sao Paulo). 2017;15:489–491.

    Birnkrant DJ, et al. Lancet Neurol. 2018;17:251–267 [Part 1].

    Helderman-van den Enden ATJM, et al. Clin Genet. 2011;79:236–242.

    Institute of Medicine (US) Committee on Assessing Genetic Risks; Andrews LB, et al., editors. Assessing genetic risks: implications for health and social policy. Washington, DC: National Academies Press (US); 1994: 4. Issues in genetic counseling. Available at https://www.ncbi.nlm.nih.gov/books/NBK236049/ [last accessed March 2021].

    Parent Project Muscular Dystrophy. Genetic counseling. Available at https://www.parentprojectmd.org/about-duchenne/is-it-duchenne/genetic-counseling/ [last accessed March 2021].

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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.