Diagnosis

1. Clinical Examination: Observation of symptoms and family history.
2. Creatine Kinase (CK) Levels: Elevated CK levels in the blood indicate muscle damage.
3. Genetic Testing: Confirms the diagnosis by identifying mutations in the DMD gene.
4. Muscle Biopsy: Used if genetic testing is inconclusive; shows absence or reduction of dystrophin protein. 

 
Treatment 

1. Corticosteroids: Prednisone and deflazacort can slow muscle degeneration and prolong ambulation.
2. Cardiac Care: Regular monitoring and treatment for cardiomyopathy and heart failure.
3. Respiratory Support: Use of non-invasive ventilation (e.g., BiPAP) and other respiratory aids.
4. Physical Therapy: Helps maintain muscle function and flexibility and prevent contractures.
5. Orthopedic Interventions: Bracing, surgery for scoliosis, and other procedures to improve mobility and comfort.
6. Assistive Devices: Wheelchairs, standing frames, and other mobility aids.
7. Emerging Treatments: Gene therapy, Exon skipping and stem cell therapy.

Managing Duchenne Muscular Dystrophy in children requires a comprehensive, proactive approach involving regular medical care, effective treatments, and robust support systems. Continued research and medical advances offer hope for improved outcomes and quality of life for affected individuals.

Image credit: Content credentials Generated with AI ∙ July 2, 2024 at 6:29 AM