杜氏肌营养不良患者依然面临多方困境，专家共探诊疗、康复新路径

Core Viewpoint - The article emphasizes the importance of awareness and management of Duchenne Muscular Dystrophy (DMD), highlighting the need for improved treatment options and support for affected families [1][2][4]. Group 1: Disease Overview - DMD is a severe muscle degeneration disease caused by X-linked recessive inheritance, primarily affecting males, with an estimated prevalence of 1 in 5,000 newborn boys globally [2]. - There are approximately 250,000 DMD patients worldwide, with around 70,000 in China, making it one of the countries with the highest number of DMD patients [2]. Group 2: Disease Progression and Management - DMD progresses through five stages based on age and mobility, with a median age of death in China at approximately 18.57 years, while current standard treatments extend median survival to 28.7 years, an increase of over 10 years compared to untreated patients [3]. - Multidisciplinary management can delay disease progression and improve quality of life, with standardized treatment showing survival rates between 24.8 and 27.9 years [3]. Group 3: Treatment Challenges - The standard treatment adherence rate for DMD patients is only 23%, with a lack of specialized medical resources leading to inadequate treatment and management [7]. - Long-term use of traditional corticosteroids can result in adverse effects, prompting a demand for better, less harmful treatment options [7]. Group 4: New Developments - The approval of the first DMD-specific drug, Vamorolone, in December 2024 marks a significant advancement in treatment options, transitioning patients from having no available treatments to a new era of standardized care [7]. - Over 40 clinical research projects for DMD treatments are currently underway globally, indicating a promising future for patient longevity [7]. Group 5: Financial and Policy Concerns - High drug prices and insufficient insurance coverage pose significant barriers for DMD families, with over 70% of families spending more than 60% of their income on medical expenses [8]. - Calls for improved insurance coverage and legislative support for rare diseases are emphasized to ensure better access to treatment for patients [8]. Group 6: Community Engagement - The DMD Annual Summit and empowerment training aim to raise awareness and provide resources for patients and families, encouraging community involvement in DMD advocacy [9].