William Hur, PharmD, RPh
Duchenne (DMD) is a rare disorder but is one of the most frequent forms of muscular dystrophy impacting 1 in 3500 male births world-wide. Because the mutation that causes DMD occurs on the X chromosome, Duchenne affects males almost exclusively. That genetic abnormality impacts their ability to create a protein called dystrophin, which is crucial for the development and function of muscles as it thought to stabilize cell membrane during muscle contraction to prevent contraction induced damage. Unfortunately, there is no cure for the DMD.
Boys and young men with the disease become increasingly weak, often beginning in the pelvic area and shoulders. As the disease progresses, so does muscle atrophy, affecting mobility, heart, lung, and even brain function. Although signs of the disease can begin to show as early as two, confirmation can take time, pushing the average age of diagnosis to around four years old.
Because DMD can affect many functions and impact daily life in different ways, treatment requires various specialists. Therefore, early diagnosis is essential for parents to plan their child’s care appropriately and access early medical screenings and treatments.
Parents should learn the early markers of the disease, especially if muscular dystrophy appears in their medical family history. One significant sign (Gower’s maneuver) occurs when a child uses their hands to ‘walk’ up their legs to stand — instead of using hip and thigh muscles to push themselves up. Other symptoms include:
- Developmental delays in sitting, walking, running, or language
- Unsteadiness or frequent falls
- Difficulty with stairs
- Toe walking
- Large calf muscles
If you have concerns about your child’s development, log your observations and call your doctor or pediatrician. For more information about Duchenne muscular dystrophy, contact Defeat Duchenne Canada.