The earliest and most common sign of neuromuscular disease is muscle weakness, which manifests as delayed motor development.1,2 Delays in language, speech and cognition should also prompt suspicion that something may be wrong.1,3-5 Monitoring motor development can help to identify developmental delay earlier, speeding up the diagnostic process and access to the right care.3
Interested in learning more on neuromuscular disorders? Please click below to an accredited eLearning module developed by the Royal College of Paediatrics and Child Health (RCPCH). This eLearning module has been supported by a financial grant from PTC Therapeutics. PTC Therapeutics have had no involvement in the development of the content of this module.
In this first-hand account, a mother describes what life with Duchenne feels like for her and her son. She reflects on some of the challenges and successes that her family have experienced with a Duchenne diagnosis.

IS YOUR PATIENT LAGGING BEHIND?

Caring for your Duchenne patient

Children with neuromuscular disease experience progressive muscle deterioration and an ongoing decline in physical function.6

Signs and symptoms may begin in early infancy, but it can take time before a child is diagnosed.1,2

This could mean missing out on early interventions and support for the child and parents or caregivers.1,7

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RECOGNISING MOTOR DELAY IS KEY TO EARLY DIAGNOSIS[2,9]

The earliest and most common sign of neuromuscular disease is muscle weakness, which manifests as delayed motor development.1,2 Delays in language, speech and cognition should also prompt suspicion that something may be wrong.1,3–5

Monitoring motor development can help to identify developmental delay earlier, speeding up the diagnostic process and access to the right care.3

Find out how to identify developmental delay

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MISSED MOTOR MILESTONES MAY BE A SIGN OF MUSCULAR DYSTROPHY[2,9]

Muscular dystrophy is a group of disorders characterised by progressive muscle degeneration and weakness.6
It is caused by mutations in genes that produce either dysfunctional, or insufficient levels of, proteins that are essential for muscle cell stability.6
Learn more about the main types of muscular dystrophy
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DUCHENNE IS THE MOST COMMON AND MOST SEVERE FORM OF MUSCULAR DYSTROPHY10

The onset of symptoms occurs in childhood, typically around the age of 2.5 years,1 but can be as early as 2 months.11

Delayed motor milestones are the most noticeable signs in early childhood. Key symptoms can include:9

  • Not walking by 16–18 months
  • Gowers’ sign: A manoeuvre where the child ‘climbs’ their legs to achieve a standing position
  • Toe walking: At any age, but especially before the age of 5 years

Progressive muscular damage results in a loss of ambulation and wheelchair dependence9 before the teenage years.11

Ultimately, progressive muscle degeneration causes respiratory and cardiac failure, leading to early death.9

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DO NOT WAIT
If you see signs of Duchenne, refer your patient to a neuromuscular specialist. Get more information here
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EARLY DIAGNOSIS CAN DELAY DISEASE PROGRESSION1

There is no cure for Duchenne muscular dystrophy. But medications and supportive care can help improve outcomes, slow the course of the disease and extend survival.1,9,12–14 That is why early detection is vital.

It also means:

  • Parents of patients can have access to genetic counselling, which can assist with family planning1
  • It may be possible to enrol the child in research-based registries and clinical trials of novel treatments1
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YOUR ROLE IN DETECTING DUCHENNE HAS NEVER BEEN MORE IMPORTANT

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

Click here for information on what to do if you suspect Duchenne.

Know the signs and symptoms of Duchenne
Know the signs

What you need to know about the signs and symptoms of Duchenne

Learn more
Screen and refer your patient
Screen and refer

Considerations for screening and how to make a quality referral

Learn more
Diagnose your patient
Diagnose

How to confirm a diagnosis with genetic testing

Learn more
Treat your patient
Treat

How timely therapeutic strategies can help delay disease progression and improve clinical outcomes

Learn more
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