Therapies to Preserve Function and Quality of Life

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

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

EP: 18.Employing Novel Therapies for the Treatment of DMD

EP: 19.Corticosteroid Use in Duchenne Muscular Dystrophy Management

EP: 20.The Role of Dystrophin Restoration and Gene Therapy in Cardiac and Pulmonary Function

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EP: 21.Therapies to Preserve Function and Quality of Life

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This segment returns to the case of the 13-year-old patient to discuss practical treatment approaches for preserving independence and quality of life. Standard of care optimization includes early cardiology evaluation with prophylactic cardioprotective medications and pulmonary function testing to identify needs for assistive devices like cough assist machines or sleep pressure support. These proactive measures can prevent complications before they become symptomatic.

Ofloxacin (histone deacetylase inhibitor) represents an available muscle-supportive therapy that works synergistically with steroids to further delay disease milestones. While efficacy data in teenagers remains limited, many patients in this age group have begun treatment. For this specific patient with an exon 44 deletion, casimersen (exon 45 skipping therapy) offers a targeted genetic approach through weekly infusions, though dystrophin restoration remains modest with current generation agents.

The discussion emphasizes the importance of considering both established treatments and research opportunities. Gene transfer therapy for Duchenne muscular dystrophy has become available, requiring careful discussion with families about potential benefits and risks. Next-generation exon skipping approaches and muscle health-targeted therapies in clinical trials may offer additional options. The segment highlights how individualized treatment planning must consider the patient's specific genetic mutation, current functional status, and family preferences while maintaining realistic expectations about therapeutic outcomes.