Clinical Research – Duchenne Muscular Dystrophy
Duchenne muscular dystrophy (DMD) is an X-linked (fig 1) neuromuscular disorder characterized by progressive loss of muscle function (fig 2) in young boys. DMD affects approximately 1 in 3500 – 4500 male births each year . Around age 3-5, boys begin showing signs of gait irregularity, apparent clumsiness accompanied by falls, and toe-walking . The disease progresses in the skeletal muscles causing loss of ability to climb stairs, and eventual total loss of ambulation, being bound to a wheelchair, by late childhood. Without intervention, progressive complications in respiratory and cardiac systems will emerge. Death of patients with DMD is usually caused by failure of the cardiac or respiratory muscles at a mean age of 19 years .
Figure 1: Inheritance of DMD – Image: parentprojectmd.org
Figure 2: Areas of muscle affected by Duchenne muscular dystrophy – Image: mda.org
In our laboratory, we use radiation-force based ultrasound to non-invasively monitor progression of the disease. Our research focuses on understanding the composition of individual skeletal muscles, with the goal of monitoring muscle health. Such technologies would empower researchers to track response to novel treatments for DMD.
For more information on DMD, visit https://www.mda.org/disease/duchenne-muscular-dystrophy
For more information on our research results, see our Publications page.