Duchenne muscular dystrophy: Current treatment and emerging exon skipping and gene therapy approach

Area of Science:

• Neuromuscular Disorders
• Genetics
• Biochemistry

Background:

• Duchenne muscular dystrophy (DMD) is an X-linked recessive neuromuscular disorder.
• It results from the loss of the dystrophin protein, leading to progressive muscle weakness and atrophy.
• Diagnosis typically occurs in early childhood, with a life expectancy around 20 years due to disease complications.

Purpose of the Study:

• To review the pathogenesis of Duchenne muscular dystrophy.
• To explore current treatment options for managing DMD symptoms and improving quality of life.
• To discuss emerging therapeutic approaches for DMD.

Main Methods:

• Literature review of DMD pathogenesis and treatment strategies.
• Analysis of current standard care, including glucocorticoids and physical therapy.
• Evaluation of novel therapies such as gene transfer and exon skipping.

Main Results:

• Current treatments focus on symptom management and quality of life improvement.
• Emerging therapies, including adeno-associated virus (AAV) gene transfer and exon skipping agents, demonstrate safety and efficacy.
• Exon skipping agents, while producing smaller dystrophin proteins, preserve significant function and slow disease progression.

Conclusions:

• DMD pathogenesis involves the loss of functional dystrophin protein.
• While no cure exists, a combination of supportive care and emerging therapies offers improved management.
• Exon skipping presents a promising therapeutic strategy for DMD, offering advantages over traditional treatments by slowing disease progression.