WHAT IS DUCHENNE MUSCULAR DYSTROPHY (DMD)?

Duchenne is a rare genetic disorder that affects around 1 in 3,600–6,000 boys.1–4

Click greyplus in the list below to find out more.

  • Duchenne is a severe, progressive muscle-wasting disease1,4–6
  • Duchenne primarily occurs in males, but can affect females in some cases2,5
  • Duchenne is caused by mutations in the dystrophin gene1,5
  • Deletion, duplication, nonsense and other small mutations can cause Duchenne7–9
  • With no functional dystrophin, muscle cells degenerate10
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THE SIGNS OF DUCHENNE CAN BE DIFFICULT TO DETECT11

The signs of Duchenne can be difficult to detect The signs of Duchenne can be difficult to detect

This, combined with the rarity of the disease and non-specific early symptoms, means that diagnosis can be delayed by an average of 2 years.4,11,14

Reducing diagnostic delay is important, because early detection can mean:

  • Early interventions, which may slow the course of the disease and extend survival4,5,15
  • Enrolment in research-based registries and clinical trials4
  • Opportunities for genetic counselling and family planning4,5
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WHEN TO SUSPECT DUCHENNE5

The signs of Duchenne can be difficult to detect

Positive family history
+
suspicion of abnormal muscle function

Step 2: Developmental delay such as not walking by 16-18 months, gower's sign or toe walking

Developmental delay, such as not walking by 16–18 months, Gowers’ sign or toe walking

Step 3: Unexplained increase in transaminases

Unexplained increase in transaminases

Unsure of how to recognise developmental delay or abnormal muscle function?

Use the red flag checklist

Red flag checklist

Adapted from Birnkrant DJ, et al. 20185

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PLEASE LISTEN TO CAREGIVER CONCERNS

Caregivers who are worried about their child's development are correct more than 80% of the time*16

*Refers to identification of developmental and behavioural problems

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WHAT TO DO IF YOU SUSPECT DUCHENNE

SCREEN, THEN REFER TO SPECIALIST CARE

Elevated creatinine kinase levels reflect muscle damage
Elevated creatinine kinase levels reflect muscle damage
Order a creatine kinase (CK) blood test

This is a simple and rapid way to screen for elevated creatine kinase (CK) levels – which reflect muscle damage4,17

Find out when to order a CK test and what the results mean

Elevated creatinine kinase levels reflect muscle damage
Refer to a neuromuscular specialist

A genetic diagnosis is required to confirm Duchenne and identify the specific mutation causing the disease5

Find out when to refer to a neuromuscular specialist

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PROMPT REFERRAL IS VITAL TO GIVE YOUR PATIENTS THE BEST CHANCE OF BETTER OUTCOMES4,5

A neuromuscular specialist can then:5

Prompt referral to a neuromuscular specialist can lead to better treatment outcomes in your patients
Prompt referral to a neuromuscular specialist can lead to better treatment outcomes in your patients
Test creatine kinase (CK) levels5

CK is an enzyme found in skeletal muscle and other tissues. Elevated CK levels reflect muscle damage27

Prompt referral to a neuromuscular specialist can lead to better treatment outcomes in your patients
Identify the child’s exact mutation5

Genetic testing can identify the mutation and confirm the diagnosis5

Prompt referral to a neuromuscular specialist can lead to better treatment outcomes in your patients
Define best management options5

Timely treatment may help delay disease progression5

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