Genetic Basis and Clinical Features of Duchenne Muscular Dystrophy

Introduction

Duchenne Muscular Dystrophy (DMD) is a severe genetic disorder caused by mutations in the DMD gene. This condition leads to progressive muscle degeneration and weakness, primarily affecting boys.

Genetic Basis

The DMD gene is located on the X chromosome and encodes dystrophin, a protein essential for muscle fiber stability. Mutations in this gene result in the absence or dysfunction of dystrophin, causing muscle cell fragility and deterioration.

Clinical Features

• Progressive muscle weakness, starting in childhood
• Delayed motor development
• Frequent falls and difficulty in walking
• Cardiomyopathy and respiratory complications

Diagnosis and Treatment

Diagnosis involves genetic testing, muscle biopsies, and creatine kinase level assessment. Although there is no cure, management includes physiotherapy, corticosteroids, and emerging gene therapies.

Conclusion

DMD remains a challenging disorder with significant impact on affected individuals and their families. Research continues to explore advanced treatment options to improve patient outcomes.