Duchenne Muscular Dystrophy Treatment
Duchenne Muscular Dystrophy (DMD) is a progressive genetic disorder characterized by muscle wasting due to the absence of the protein dystrophin. For decades, treatment focused primarily on symptom management, but recent breakthroughs are now targeting the underlying genetic cause of the disease.
Standard care traditionally involves the use of corticosteroids, which help to prolong muscle strength and delay the loss of ambulation by reducing inflammation. While effective, long-term steroid use is associated with side effects such as bone density loss and weight gain. To address the root of the problem, researchers have developed exon-skipping therapies. These "molecular patches" allow the cell's machinery to bypass the specific genetic mutation, resulting in the production of a shorter but functional version of the dystrophin protein.
The most recent frontier in DMD treatment is gene therapy. This involves using a viral vector to deliver a "micro-dystrophin" gene directly into the muscle cells. Because the full dystrophin gene is too large to fit in current delivery systems, this scaled-down version provides the essential structural support needed to stabilize the muscle cell membrane. Clinical trials have shown promising results in improving motor function in young patients. When combined with rigorous physical therapy and respiratory support, these genetic interventions represent a significant shift toward altering the natural history of the disease rather than just managing its decline.