Duchenne Muscular Dystrophy (DMD)

 

Duchenne muscular dystrophy (DMD) is a genetic disorder characterized by progressive muscle degeneration and weakness due to the absence or deficiency of dystrophin, a protein that helps keep muscle cells intact. DMD primarily affects males, with 1 in 3,500 to 5,000 male births affected.

Symptoms

Symptoms of DMD typically appear in early childhood, between ages 3 and 5. The first sign is often difficulty walking, which progressively worsens over time. Other symptoms may include:

• Frequent falls
• Difficulty getting up from a lying or sitting position
• Difficulty running and jumping
• Waddling gait
• Enlarged calf muscles
• Weakness in the arms, neck, and other areas
• Fatigue
• Difficulty breathing

Diagnosis

Diagnosis of DMD usually involves a combination of physical exams, genetic testing, and muscle biopsies. Blood tests can detect elevated levels of creatine kinase, an enzyme that leaks out of damaged muscle tissue.

Treatment

There is currently no cure for DMD, but there are treatments that can help manage symptoms and slow the progression of the disease. These may include:

• Steroids: corticosteroid medications, such as prednisone, can help slow muscle degeneration and improve muscle strength and function.
• Physical therapy: exercises and stretches can help improve mobility and prevent joint contractures.
• Assistive devices: braces, wheelchairs, and other devices can help with mobility and independence.
• Respiratory therapy: breathing assistance devices, such as ventilators or cough assist machines, can help manage breathing difficulties.

Research

Research into treatments for DMD is ongoing. Some experimental therapies include gene therapy, which aims to replace or repair the mutated dystrophin gene, and exon skipping, which aims to bypass the faulty part of the gene to produce a shorter, but still functional, version of the protein.

Conclusion

Duchenne muscular dystrophy is a devastating genetic disorder that primarily affects males. While there is currently no cure, treatments are available to help manage symptoms and slow the progression of the disease. Ongoing research may lead to new therapies and, one day, a cure.

Duchenne muscular dystrophy (DMD) is a genetic disorder characterized by progressive muscle degeneration and weakness. Currently, there is no known cure for DMD, but there are treatments available that can help manage symptoms and slow the progression of the disease. However, these treatments can be expensive and are not always accessible to all patients.

In India, there have been calls for the government to make DMD drugs more widely available to children who have the disease. Advocates argue that the government should take action to ensure that all children with DMD have access to the treatments they need, rather than leaving some behind.

According to the World Health Organization, the Indian government has taken steps to improve access to healthcare in recent years, including efforts to increase access to essential medicines. However, there is still much work to be done to ensure that all patients, including those with rare diseases like DMD, have access to the treatments they need.