If your child has recently been diagnosed with Duchenne Muscular Dystrophy (DMD), you likely have many questions. This guide provides an overview of what DMD is, what to expect, and how to navigate the journey ahead. What is DMD? Duchenne Muscular Dystrophy is a genetic disorder that causes progressive muscle weakness and degeneration. It is caused by a mutation in the gene that codes for dystrophin — a protein that acts as a shock absorber inside muscle cells. Without dystrophin, muscles become damaged and weaken over time. DMD primarily affects boys, with symptoms usually appearing between ages 2 and 5. Early signs include: - Difficulty walking or running - Frequent falls - Trouble climbing stairs - Walking on tiptoes - Enlarged calf muscles - Difficulty getting up from the floor (Gowers' sign) Diagnosis in Kenya Diagnosis is confirmed through a creatine kinase (CK) blood test, genetic testing, or muscle biopsy. In Kenya, genetic testing is available at select facilities including KEMRI and Aga Khan University Hospital. Early diagnosis is critical for accessing interventions that improve quality of life. Treatment and Care While there is no cure yet, a multidisciplinary approach can significantly improve outcomes: - Corticosteroids to slow muscle degeneration - Physiotherapy to maintain flexibility and function - Occupational therapy for daily living skills - Respiratory care as the condition progresses - Cardiac monitoring and management - Nutritional support Research Progress Significant advances are being made globally, including gene therapy, exon skipping, and other emerging treatments. Kenya is participating in international registries to ensure our children are included in future clinical trials. Remember: a DMD diagnosis is not the end of hope. With proper care, support, and community, children with DMD can lead meaningful lives well into adulthood.