Duchenne Muscular Dystrophy (DMD)

Diagnosis typically involves a combination of the following:

• Clinical evaluation: Delayed milestones, frequent falls, difficulty running or climbing
• Blood test: Elevated creatine kinase (CK) levels
• Genetic testing: Identification of DMD gene mutations (deletions, duplications, point mutations); MLPA and NGS panel sequencing
• Cardiac and pulmonary assessments: As the disease can involve heart and lung function

Early diagnosis is crucial for timely intervention and access to clinical trials.

There is currently no cure for DMD, but multiple therapies help manage symptoms and slow disease progression:

• Corticosteroids: Standard treatment to preserve muscle strength and function
• Cardiac and respiratory care: ACE inhibitors, beta-blockers, ventilatory support
• Physical and occupational therapy: Maintain mobility and prevent contractures
• Surgical interventions: For scoliosis or joint correction

Emerging targeted therapies: 

• Exon-skipping drugs (e.g., eteplirsen, viltolarsen)
• Stop-codon readthrough agents (e.g., ataluren)
• Gene therapy (ongoing trials)
• Antisense oligonucleotide (ASO) therapies

Multidisciplinary care is essential to maximize quality of life and prolong survival.

Our center actively participates in global and domestic clinical trials for DMD, including:

• Exon-skipping trials targeting various mutations (e.g., exon 51, 53, 45)
• Gene therapy studies using viral vectors to deliver micro-dystrophin
• Novel oral drugs aiming to reduce inflammation or fibrosis
• ASO-based personalized therapies under research in selected patients
• Natural history and biomarker studies for long-term monitoring

We collaborate with pharmaceutical companies, academic consortia, and regulatory bodies to provide early access to investigational treatments and to advance global research efforts.