The chief medical officer at ML Bio Solutions, an affiliate of BridgeBio, talked about the importance of awareness for neuromuscular diseases such as Duchenne muscular dystrophy and why a timely diagnosis can make a profound difference in a patient’s life. [WATCH TIME: 3 minutes]
WATCH TIME: 3 minutes
"The significance of disease awareness cannot be overstated. It is crucial for clinicians in the neuromuscular field to be informed about what interventions are possible from a public health perspective. Moreover, increasing awareness regarding the effects and the current opportunities for addressing such diseases, not only in the neuromuscular domain but also for many other related conditions, is of paramount importance."
During Muscular Dystrophy Awareness Month, held annually in September, the neuromuscular community comes together to raise awareness for conditions such as Duchenne muscular dystrophy (DMD) and other muscular dystrophies. Throughout the month, researchers, patients, clinicians, and other stakeholders shine a spotlight on these conditions to power and educate people on their impact.
DMD is caused by pathogenic variants in the dystrophin gene which then leads to progressive muscle degeneration and weakness. In 2020, the global prevalence for DMD was 7.1 cases (95% CI, 5.0–10.1) per 100,000 men and 2.8 cases (95% CI, 1.6–4.6) per 100,000 in the general population. For DMD globally in boys by birth prevalence was 19.8 (95% CI, 16.6–23.6) per 100,000 live births.1 Symptoms of the condition typically present themselves early between the ages of 2 and 4 years old and include difficulty climbing stairs, a waddling gait, and frequent falls. By 10 years, heart muscles can be impacted and most patients become wheelchair-bound during in the second decade of their life.2
Recently Douglas Sproule, MD, MSc, chief medical officer at ML Bio Solutions, an affiliate of BridgeBio, sat down with NeurologyLive® in an interview to have a conversation about DMD awareness in the neuromuscular field. He gave his clinical perspective on how DMD affects the lives of those diagnosed with it, as well as the importance of early diagnosis for neuromuscular diseases. Additionally, Sproule explained the challenges in recognizing and diagnosing these conditions, and how awareness can help overcome them.