Bridging the Gap: An Osteopathic Primary Care-Centered Approach to Duchenne Muscular Dystrophy

Area of Science:

• Pediatrics
• Neurology
• Genetics

Background:

• Duchenne muscular dystrophy (DMD) is a severe, incurable genetic disorder diagnosed in early childhood.
• A significant diagnostic delay exists, often exceeding one year from initial caregiver concern to physician-ordered creatine kinase testing.
• Early intervention can potentially double a patient's lifespan, highlighting the urgency for prompt diagnosis.

Purpose of the Study:

• To provide osteopathic primary care physicians with updated information on diagnosing and managing Duchenne muscular dystrophy.
• To emphasize the critical role of primary care physicians in the early detection and coordinated treatment of DMD.
• To address challenges in accessing specialized care due to geographic and economic factors.

Main Methods:

• This is a review article.
• It synthesizes current medical literature on Duchenne muscular dystrophy diagnosis and management.
• The focus is on information relevant to primary care physicians.

Main Results:

• Delayed diagnosis of DMD is common, impacting treatment initiation.
• Primary care physicians face challenges in timely diagnosis and coordinating multidisciplinary care.
• Access to specialized treatment centers is limited for some patients.

Conclusions:

• Prompt diagnosis of Duchenne muscular dystrophy is essential for improving patient outcomes.
• Primary care physicians are pivotal in overcoming diagnostic delays and coordinating care.
• Addressing disparities in access to specialized DMD care is necessary.