Signs and symptoms of Duchenne muscular dystrophy (DMD)

Dr. Luca Bello discusses the importance of early diagnosis of DMD and how to recognise the early signs and symptoms (muscle weakness, not walking by 16-18 months, calf hypertrophy, cognitive and speech delay). If you suspect DMD, perform a creatine kinase (CK) test.

Click here to check the red flag signs and symptoms. If you suspect Duchenne muscular dystrophy, perform a creatine kinase (CK) test. Click here to learn more.

Parent’s perspective: my wonderful Duchenne son

Never will I forget the sunny day in March, many years ago, when the paediatrician announced: “Your son has a serious, incurable muscle disease.” He looked at me cautiously, as if waiting for a reaction. A sign that I understood what he had just said.

But there was nothing. My head was fuzzy.

I sat there numb, and had no idea how to start getting my head around this word. I just couldn’t grasp it. But two thoughts crossed my mind.

Was this man off his head giving me such a terrifying diagnosis after just watching my son stand up once? At the same time the thought came: of course, he’s right, and I knew it!

Despite all the reassurance from doctors, physiotherapists and other people, I had always suspected that something was wrong. If I were not so shocked, I might have felt a fleeting sense of satisfaction. Finally, I was no longer the neurotic mother who was always imagining things.

Why my child?

A dark time followed that fateful March day. For days I felt like I was in freefall. Not once was I able to remember the words ‘muscular dystrophy’, because my consciousness refused to accept this diagnosis. All I could think about was that my barely five-year-old, innocent, blonde, curly-haired boy would die of this disease. That thought ripped my heart out.

Why my child? As hard as it was, I kept asking myself the same question. I quarrelled with God and the world – especially with God. What had I done to deserve this? What had my child done? I looked for answers in religion, read books on coping strategies, and looked for advice from other parents of ‘special’ children, gradually learning to give up meaningless and difficult questions.

I decided that despite this devastating diagnosis, we would have a good life

Naturally, my little boy did not suspect what was going on, and his older sister went about her life. That was maybe my salvation: I was forced to carry on as normally as possible. After a few weeks this hard time ended and I began to deal with the illness. I spoke to the nursery, primary school, friends and neighbours. I turned to the church and I researched self-help groups. Sometimes I had to swallow a lot but the more I talked about the disease, the easier it became for me. I decided that we would have a good life despite this devastating diagnosis. The idea of life expectancy faded into the background and disappeared for many years. I stopped searching for research and concentrated on life instead.

Important decisions had to be made again and again. Which school is suitable? How would he get on there? Does he need a teaching assistant, or could he manage without? How will I deal with the topic of school trips? Will he be bullied? Should he take steroids or not? How can I tell him why he is so different from his friends? How do I find the right words?

When will he need a wheelchair? How can we deal with the situation as a family? Will I be able to do justice to his sister? Many sleepless nights came and went, and it was always my son who gave me courage and strength.

Naturally our life was very different to those of our family, neighbours and friends, simply because we thought differently.

Completely and naturally, he accepted his fate

My son went to the only local primary school along with his friends, unfortunately on a hill. Sending him to the nearest special school would certainly have made many things easier, but I didn’t feel he belonged to that world yet. The children in his class were totally at ease with him and the school went out of their way to make school trips manageable. He felt fine, was almost always in good spirits and carried on like a normal person. The moments when he was sad or stressed were rare and never lasted long.

As he got older he started to think about his situation. He kept his thoughts to himself. Text books say you should only answer the questions your child asks. But he did not ask questions. He seemed to sort things out on his own. Without any fuss, he just seemed to accept his fate. I was worried because for a long time I thought he needed to know what was the matter with him. But I found out many years later that he had in fact known for a long time, but just didn’t talk about it. Still, I felt it was time to put my son in touch with other children with Duchenne. So, in the hot summer of the football world championship in Germany, we drove to a rehabilitation clinic in Weserbergland for the first time.

I was surprised to discover how relaxed and happy the mood was between the parents and children; even families with older boys were having fun. I was even more surprised that we became part of a big family. To this day, our rehabilitation stays in Hoxter are one of the highlights of the year.

His illness always gave me the time to grow into it and keep up

And so the years went by. There were several surgeries and long hospital stays. The need for financial assistance steadily increased, there were many battles with health insurance, and there was always the ongoing worry about his health, his muscle loss and loss of function, ventilation and heart medication.

I watched his playmates progressing while he went backwards, and that hurt a lot. On the other hand, I learned to live in the present – a skill I had always wanted. His illness always gave me the time to grow into it and keep up. I grew into it and made my peace with Duchenne.

Today my son is a smart, polite and, above all, compassionate person who always makes me laugh with his dry humour. He is a gift: my wonderful Duchenne son!

Click here to find out what you can do help to achieve the correct diagnosis and bring reassurance to families.

Reaching a Duchenne muscular dystrophy (DMD) diagnosis from an initial suspicion of the condition

Suspicion of DMD – next steps for diagnosis

Watch this video to hear from Dr. Luca Bello, Physician Neurologist from Padova, Italy discussing the diagnostic journey for a DMD patient. Starting with a creatine kinase (CK) test to the importance of an accurate diagnosis through genetic testing to enable the correct medical management options to be identified.

Don’t wait to investigate suspicions of Duchenne muscular dystrophy. Order a CK test, elevated CK levels should prompt referral to a neuromuscular specialist for further testing.

What are the early signs and symptoms of Duchenne muscular dystrophy?

The onset of symptoms occurs in childhood.1 Delayed motor milestones are the most noticeable signs in early childhood. Key symptoms can include:2
  • Delayed motor development2
  • Difficulty rising to stand or not walking well by 18 months1,3
  • Delayed speech and/or cognitive delay2

How a DMD child might rise from the floor: Gowers’ manoeuvre4–6

The difference in calf muscles of a healthy boy versus a boy with DMD

PTC has the right to distribute this image in perpetuity.

Recognising red flag signs and symptoms

Developmental delay should trigger a creatine kinase (CK) test2,3

Carrier screening for Duchenne muscular dystrophy (DMD): why is it important and who is eligible?

Early detection means that women who are carrying the DMD mutation can:

  • Be offered genetic counselling, which can inform them about the risks of transmitting the mutated allele in future pregnancies2
  • Have the option of prenatal genetic testing2
  • Be made aware of alternative reproductive options, such as the use of donor eggs or human assisted reproduction with preimplantation genetic diagnosis (PGD)2
  • Undergo regular surveillance for cardiomyopathy from early adulthood5
  • Receive early cardiac treatment if heart involvement is detected3,4

Who is eligible for carrier analysis?

Family members of an individual with DMD should receive genetic counselling to establish who is at risk of being a carrier.1

Carrier genetic testing should be performed in female relatives of a boy or man who has been genetically confirmed to have DMD.1

Carrier testing may help reduce the transmission of Duchenne muscular dystrophy and improve outcomes for women at risk.1-4 Click here for the 2018 Duchenne Care Considerations.

The importance of early diagnosis

While there is no cure for Duchenne muscular dystrophy, studies have shown that early diagnosis and care can help slow DMD progression and minimise the risks and complications of the disease.1-5

This means that patients may:1,2,5-8

stairs

Remain ambulatory for longer

lungs

Preserve their pulmonary and cardiac function longer

Have a better quality of life

Live Longer

It also means:

  • Parents of patients can have earlier access to genetic counselling, which can assist with family planning2
  • It may be possible to enroll the child in research-based registries and clinical trials of investigational treatments2

Your role in detecting DMD has never been more important

Prompt intervention is critical to help delay disease progression and help preserve muscle function for as long as possible.

Early diagnosis and care can help slow Duchenne muscular dystrophy progression and minimize the risks of complications of the disease.
If you see signs and symptoms of Duchenne muscular dystrophy, order a creatine kinase (CK) test – click here to learn more

Duchenne muscular dystropy (DMD): What is it and how is it managed?

From the recognition of symptoms to management and supportive care, there are multiple stages in the management of a patient with DMD.

In this video, Prof. Ros Quinlivan from the National Hospital for Neurology and Neurosurgery in London, UK describes the early key signs and symptoms that would trigger a suspicion and further testing. She also describes the progressive nature of the disease and discusses her centre’s experience in the management of patients with DMD.

This video is based on professional and expert opinion of Prof. Ros Quinlivan.

Genetic testing for Duchenne muscular dystrophy

Genetic testing is the only method for determining a patient’s specific mutation type.1,2 This is important because a specific genetic diagnosis may help identify medical management options and potential to enrol into clinical trials.2

Additionally, once a mutation is identified, female relatives can find out their carrier status. This is important for two main reasons:2

number 1

Female carriers can pass on Duchenne muscular dystrophy to their children

number 2

Female carriers need medical assessment and follow-up

A genetic diagnosis involves two types of tests

First-level testing1,3
  • The majority of mutations (~70%) are detected by multiplex ligation-dependent probe amplification (MLPA)
  • MLPA can detect both large deletions and large duplications in patients and carriers
Second-level testing1
  • If no mutation is found, gene sequencing should be performed
  • Only gene sequencing can definitely detect smaller mutation types. These mutations include point mutations (nonsense or missense), small deletions, and small duplications or insertions

How to accurately diagnose Duchenne muscular dystrophy1,2

Adapted from references 1, 4 and 5

Genetic testing is the only way to determine the specific mutation causing Duchenne muscular dystrophy and could help patients get on the right treatment pathway1,2

What is creatine kinase (CK)?

Creatine kinase (CK) is an enzyme found in skeletal muscle as well as in the heart, brain and other tissues. Increased amounts of CK are released into the blood when there is muscle damage.1 Elevated CK levels reflect muscle damage in patients with Duchenne muscular dystrophy, making it an important diagnostic marker for the condition.2

When to order a CK test

A CK test should be carried out if:

  • Examination and medical history suggest progressive muscle weakness1,3,4
  • A child has delayed motor function, such as not walking well or not able to rise to stand by 18 months1,3,5,6
  • A child shows developmental delay, including delays with mixed presentation (e.g. speech and cognition), and evaluation suggests a peripheral neuromuscular problem3
  • A child has a positive family history of Duchenne muscular dystrophy and suspicion of abnormal muscle function6
  • Blood tests reveal an unexplained increase in transaminases6

What the results mean1,6

IF CK IS ELEVATED
(Normal range is generally up to 250 U/L*)1
Refer to neuromuscular specialist for Duchenne muscular dystrophy gene testing6
IF CK IS NORMALDoes not rule out other neuromuscular disorders1

Developmental delay should trigger a CK test

Normal or mildly elevated CK levels do not rule out neuromuscular disease1

*The normal CK range is generally up to 250 U/L. Absolute values may differ between laboratories.1

Prompt CK testing can help to achieve the correct diagnosis and bring reassurance to families1,9

Children with developmental delays should have a creatine kinase (CK) test

If a child is failing to meet developmental milestones, it could be due to a neuromuscular disorder.1,2 Primary care physicians are ideally placed to recognise the early signs and symptoms of neuromuscular disorders, so that children can be referred to a neuromuscular specialist without delay.1,2 To check the red flag signs and symptoms click here.

If you suspect a neuromuscular disorder, order a CK blood test.1
• Elevated CK levels reflect muscle damage, and are a sign of certain neuromuscular disorders1–5
• A CK test is quick, simple and inexpensive1,3,6

A CK test should be carried out if:

  • Examination and medical history suggest progressive muscle weakness7-9
  • A child has delayed motor function, such as not walking well or not able to rise to stand by 18 months2,7,8,10
  • A child shows developmental delay, including delays with mixed presentation (e.g. speech and cognition), and evaluation suggests a peripheral neuromuscular problem7
  • A child has a positive family history of Duchenne muscular dystrophy and suspicion of abnormal muscle function2
  • Blood tests reveal an unexplained increase in transaminases 2

Refer all patients with elevated CK levels or missed motor milestones8,11

All patients who have elevated CK levels should be promptly referred to a neuromuscular specialist.8,11

Normal or mildly elevated CK does not rule out neuromuscular disorder. If a patient has missed motor milestones, they should also be referred to a neuromuscular specialist.8

Prompt referral is vital to give your patients the best chance of better outcomes1,2

A neuromuscular specialist can then:2

Identify the child’s exact mutation2
Confirm Duchenne muscular dystrophy with a genetic diagnosis and identify the specific mutation causing the disease2

Define best management options2
Decide upon appropriate treatment and interventions to help delay disease progression2

Developmental delay should trigger a CK test

Prompt CK testing can help to achieve the correct diagnosis and bring reassurance to families.3,13 Learn more about CK testing here.

Expert insights

The following materials are intended for healthcare professionals. These materials have been developed and funded by PTC Therapeutics.

Signs and symptoms of Duchenne muscular dystrophy (DMD)

Physician Neurologist Dr. Luca Bello explains the importance of early diagnosis and key signs and symptoms to look out for in DMD.

Suspicion of Duchenne muscular dystrophy (DMD)

Dr. Luca Bello describes the key steps in reaching a DMD diagnosis from an initial suspicion of the condition.

Duchenne muscular dystrophy (DMD): From signs and symptoms to management

Paediatric Neurologist Dr. Damjan Osredkar discusses his centre’s experience in the diagnosis and management of DMD. He also describes the benefits of a multidisciplinary care team and explains why it is important to have an individualised DMD care plan.

Duchenne muscular dystrophy (DMD): What is it and how is it managed?

Prof. Ros Quinlivan from the National Hospital for Neurology and Neurosurgery in London, UK describes the early key signs and symptoms that would trigger a suspicion and further testing.

Read more on how you can help aid recognition and diagnosis of Duchenne muscular dystrophy

Genetic counselling offers many benefits for families living with Duchenne muscular dystrophy (DMD)

5 reasons to refer DMD families to a genetic counsellor:1-3

number 1

They provide education about DMD and its therapeutic options

number 2

They can coordinate diagnostic genetic testing

They can establish who is at risk of being a carrier and organise carrier genetic testing

They can discuss family planning options

They provide emotional counselling

International Care guidelines recommend that family members of an individual with Duchenne muscular dystrophy should receive genetic counselling to establish who is at risk of being a carrier.

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