A closer look at a
As the most common form of muscular dystrophy, much is known about the cause of DMD and the challenges of treating this genetic disorder.
A closer look at a complex disease
As the most common form of muscular dystrophy, much is known about the cause of DMD and the challenges of treating the genetic disorder.
You probably know a lot about Duchenne muscular dystrophy (DMD) already from discussions with healthcare professionals and doing your own research. In brief, DMD is an X chromosome-linked disease that results from mutations in the gene that codes for dystrophin—a structural protein essential for the development and survival of muscle. It is the most common form of muscular dystrophy.
Because of its association with the X chromosome, DMD occurs mainly in boys, affecting about 1 in every 3,500 boys worldwide. Girls may also carry a defective dystrophin gene, but because they have two X chromosomes, females rarely display symptoms or experience the severe muscle degeneration that can affect boys.
To date, corticosteroids are the only medications that have demonstrated clinical efficacy in patients with DMD in well-controlled studies. However, these benefits must be weighed against potential side effects from long-term steroid use, such as weight gain, hypertension and increased risk of fractures.
- Initial signs of DMD include a delay in achieving independent walking, also described as “late walkers.”
- Toddlers with DMD may eventually have difficulty getting up from a seated position, walking and running.
- Most boys display symptoms by the age of 3, and lose their ability to walk independently by age 15.
- Boys with DMD can also experience multiple complications, including a shortening of muscles and joints (contractures), progressive spine curvature (scoliosis), heart abnormality (cardiomyopathy) and a decline in respiratory function.
Clinical Trial Information
Brave is a clinical trial of MNK-1411, an experimental treatment thought to impact the progression of DMD by helping reduce inflammation and by improving muscle function.