Navigating the Heterogeneous Progression of Duchenne Muscular Dystrophy

EP: 1.Navigating Duchenne Muscular Dystrophy: An Early-Childhood Case Example

EP: 2.The Critical Role of Dystrophin in the Pathophysiology of Duchenne Muscular Dystrophy

EP: 3.Newborn Screening and Primary Care Awareness for Timely Referral

EP: 4.Early Recognition of Duchenne Muscular Dystrophy: Key Signs Across Developmental Domains

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EP: 5.Navigating the Heterogeneous Progression of Duchenne Muscular Dystrophy

EP: 6.Screening and Managing Comorbidities for Patients With Duchenne Muscular Dystrophy

EP: 7.Bridging the Gaps in Duchenne Muscular Dystrophy: Multidisciplinary Approaches for Better Outcomes

EP: 8.Navigating the Complexities of Adolescent Duchenne Muscular Dystrophy

EP: 9.Understanding the Causes of Duchenne Muscular Dystrophy

EP: 10.An Overview on The Root Causes of Duchenne Muscular Dystrophy

EP: 11.The Impact of Dystrophin Levels on Duchenne Muscular Dystrophy Progression

EP: 12.The Role of Gene Therapy for Patients with Duchenne Muscular Dystrophy

EP: 13.The Importance of Early Intervention in Duchenne Muscular Dystrophy

EP: 14.Case 2 Overview: Patient at 16 with Duchenne Muscular Dystrophy

EP: 15.Considering New Duchenne Muscular Dystrophy Therapies: Exon Skipping and Gene Therapy

EP: 16.Expert Perspectives on The Importance of Multidisciplinary Care for Patients With Duchenne Muscular Dystrophy

EP: 17.The Future of Duchenne Muscular Dystrophy Treatment: Expert Insights on Gene Therapy

Summary for Physicians

Disease Progression in Duchenne Muscular Dystrophy (DMD)DMD
DMD progresses in stages, with initial motor milestone delays and a gradual loss of motor function. Key points include the following:

• Early delays in motor milestones like such as standing, walking, running, and climbing stairs.
• Maximum motor capacity typically achieved by age 6.5½, followed by a noticeable decline in function. Some children may lose the ability to walk as early as age 7 to -8 years, while others may progress more slowly.
• Wide range of progression: Some mutations (e.g.eg, those amenable to Eexon 44 skipping) may result in slower progression and less severe weakness.
• Dystrophin deficiency leads to muscle cell damage and affects multiple organs, including the heart, lungs, and digestive system, contributing to the disease's progressive nature.
• Respiratory and cardiac involvement develop with age, and early death was common before the use of steroids and other therapies.
• Prognosis improvement: With steroids and new therapies, life expectancy has increased, and newborn screening may further improve outcomes by enabling earlier interventions.