A recent review in the International Journal of Molecular Sciences highlights how new technologies are helping doctors better understand Duchenne muscular dystrophy (DMD) and leading to better diagnosis and treatment options.
DMD is caused by changes in a gene that normally helps the body make dystrophin — a protein that acts like a shock absorber in muscles, protecting them from injury when we move. Without dystrophin, muscles slowly break down and get replaced by fat and scar tissue. In some cases of DMD, the body produces dystrophin in some muscle fibers, but not in all. Studying these cases may help researchers understand how the amount of dystrophin affects how severe DMD symptoms are.
In the past, getting a DMD diagnosis often meant going through a muscle biopsy. The review’s authors noted that thanks to advances in genetic testing, doctors can now diagnose more accurately and less invasively.
More recently, artificial intelligence (AI) is starting to be used to analyze muscle ultrasound images and detect DMD, but more work is needed to improve its accuracy.
Read more about DMD testing and diagnosis
On the treatment side, researchers are developing therapies to help the body make a functional version of the dystrophin molecule. Some approaches — like “read-through” and exon-skipping drugs — have already been approved for use, while others — like gene therapy — still need to be approved. “Recent therapeutic approaches for restoring dystrophin in DMD patients show promise, but their efficacy remains uncertain,” the review’s authors said.
Because DMD is rare, it’s difficult for researchers to recruit enough people for large studies. Looking at data from real-world use can help researchers understand how well a drug works over the long term, including whether it helps people live longer.
Other treatment strategies are also being explored. One involves increasing levels of utrophin — a protein similar to dystrophin — to improve muscle function.
The authors noted another promising area of research focuses on autophagy — the body’s natural clean-up system that removes damaged parts inside muscle cells to keep them healthy. In people with DMD, this process doesn’t work properly, leading to muscle damage and inflammation. Researchers believe that restoring or boosting autophagy could help slow the disease. A drug called rapamycin has shown promise in restarting this clean-up process and protecting muscle cells.
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