Understanding the signs and symptoms of Duchenne can lead to an early diagnosis, which is extremely important for a number of reasons.
First, it allows parents to make informed decisions about future family planning. More than that, it allows for early access to standards of care, early intervention for treatments and creates the opportunity to begin screening for conditions such as cardiomyopathy (disease of the heart muscle).
Another reason understanding the signs and symptoms of Duchenne is so essential is because children are incredible – and extremely complex – beings. It’s nearly impossible to guess whether a missed developmental milestone is something to worry about or if your child is simply developing at a different rate. Knowing the symptoms of Duchenne can empower you to discuss specific concerns with your care team, so they can connect you with the supports that best align with your child’s needs.
How Duchenne affects the body and what to look for:
Duchenne muscular dystrophy affects all the muscles in the body, including the heart and lungs. Early signs and symptoms can be hard to notice, unless you have a family history and are aware of what to look for. While symptoms tend to emerge as early as the age of two, a proper diagnosis can take some time. That’s why, on average, an accurate Duchenne diagnosis is usually made around the age of four. We are hopeful that by increasing awareness about the disease, we can fast-track families to a confirmed diagnosis, so they can start to receive the level of care and support they will need to can successfully plan for the future.
Early signs and Symptoms of Duchenne:
- Clumsiness or frequent falls
- Gower’s maneuver: using their hands and arms to “walk” up their own body when standing up from the floor (this is a sign of hip and thigh muscle weakness)
- Difficulty climbing stairs
- Toe Walking
- Trouble keeping up with their peers during activities like playing sports
- Fatiguing easily
- Large calf muscles (this occurrence is referred to as pseudohypertrophy)
- Developmental delays such as sitting, walking, running
- In some individuals, Duchenne can impact speech and language development
Signs and symptoms can be subtle, so trust your instincts.
If your child is falling behind their peers or demonstrating behaviours that do not sit well with you, there is no harm in seeking medical attention. Whether their delays can be attributed to Duchenne or there is another cause present, early intervention is always your best option to ensure you receive the best-possible care for your child.
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