Duchenne is a rare genetic disorder that affects around 1 in 3,600–6,000 boys.1–4
Click in the list below to find out more.
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:
Positive family history
suspicion of abnormal muscle function
Developmental delay, such as not walking by 16–18 months, Gowers’ sign or toe walking
Unexplained increase in transaminases
Unsure of how to recognise developmental delay or abnormal muscle function?
Use the red flag checklist
Adapted from Birnkrant DJ, et al. 20185
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
SCREEN, THEN REFER TO SPECIALIST CARE
This is a simple and rapid way to screen for elevated creatine kinase (CK) levels – which reflect muscle damage4,17
A genetic diagnosis is required to confirm Duchenne and identify the specific mutation causing the disease5
A neuromuscular specialist can then:5
CK is an enzyme found in skeletal muscle and other tissues. Elevated CK levels reflect muscle damage27
Genetic testing can identify the mutation and confirm the diagnosis5
Timely treatment may help delay disease progression5
This information is for EU Healthcare Professionals only and not intended for UK nor Ireland Healthcare Professionals. By clicking OK you are confirming that you are a Healthcare Professional based in the EU
If you are not a Healthcare Professional, visit Duchenne and You for more information on signs and symptoms and support following a Duchenne diagnosis.
Children with Duchenne suffer with progressive muscle deterioration and an ongoing decline in physical function.1,4–6
Muscle weakness becomes apparent in early childhood, and, on average, patients require a wheelchair by the early teenage years.1,4
Ultimately, respiratory and cardiac failure lead to an early death.4,5
Adapted from Birnkrant et al. 2018 part 1, Bushby et al. 2010; Goemans et al. 2014; Sussman 2002 and van Ruiten et al. 20141,2,4,5,18
Mutations in the dystrophin gene lead to the absence of, or defects in, dystrophin – an important component of the muscle cell membrane.1,5
Adapted from Muscular Dystrophy Association20
It helps prevent damage by providing stability and structure to the muscle fibre and membrane when muscles contract.10,21
This allows muscle cells to return to their initial state after stress.21
The dystrophin gene is located on the X chromosome and is the largest gene in the human genome.7 This may make it more susceptible to mutations.22
Adapted from Nowak et al. 2004 and Bladen et al. 20157,23
So far, more than 7,000 individual mutations in the dystrophin gene have been identified.7
Adapted from Bladen et al. 2015, Pichavant et al. 2011 and Kalman et al. 20117–9
It is important to know each patient’s specific mutation, because targeted therapies are being investigated.5,9
Large mutations can be detected using multiplex ligation-dependent probe amplification (MLPA). Small deletions, such as nonsense mutations, require gene sequencing.9
Gradually, muscle is replaced with fat and fibrous connective tissue.10,24,25
Adapted from Sweeney 201424
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.27
You should order a CK test if a patient has:5
*Elevated CK levels of approximately ≥500 U/L, even if symptomatic, require further assessment and should be followed up.28 CK levels >2000 U/L should prompt further investigation for DMD.28
All patients who have elevated CK levels should be immediately referred to a neuromuscular specialist.27,28
Normal or mildly elevated CK does not rule out neuromuscular disease. If a patient has missed motor milestones, they should also be referred to a neuromuscular specialist.27
This tool provides a comprehensive checklist to help identify early signs or symptoms of neuromuscular disease.
Other early signs and symptoms may include:4,5
Adapted from references 1–5.
References: 1. Noritz GH, et al. Pediatrics. 2013;131:e2016–e2027. 2. CDC developmental milestones. Available at: https://www.cdc.gov/ncbddd/actearly/milestones/index.html. [accessed April 2019].
3. Lurio JG, et al. Am Fam Physician. 2015;91:38–44. 4. Birnkrant DJ, et al. Lancet Neurol. 2018;17:251–267 [Part 1]. 5. Ciafaloni E, et al. J Pediatr. 2009;155:380–385.
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