5.Duchenne muscular dystrophy

Duchenne muscular dystrophy

Duchenne muscular dystrophy (DMD) is a genetic disorder that affects the muscles of the body, leading to progressive weakness and wasting. It is one of the most common forms of muscular dystrophy, affecting approximately 1 in every 3,500 male births worldwide.

Causes and Symptoms:

DMD is caused by mutations in the dystrophin gene, which provides instructions for making a protein called dystrophin. Dystrophin is an important component of muscle tissue, and its absence or dysfunction leads to muscle degeneration and weakness.

Symptoms of DMD typically begin to appear in early childhood, usually around the age of 3-5 years. Children with DMD often have delayed motor milestones, such as walking and running, and may have difficulty getting up from the floor or climbing stairs. As the disease progresses, muscle weakness and wasting become more pronounced, affecting the arms, legs, and torso.

Other common symptoms of DMD include:

• Frequent falls
• Difficulty standing from a sitting or lying position
• Waddling gait
• Enlarged calf muscles
• Contractures (joint stiffness)
• Breathing difficulties
• Heart problems

Treatment:

Unfortunately, there is currently no cure for DMD. However, there are several treatments that can help manage the symptoms of the disease and improve quality of life for those affected. Some of the most common treatments include:

• Steroid therapy: Steroids such as prednisone and deflazacort have been shown to slow the progression of muscle weakness in DMD, and may also improve strength and function.
• Physical therapy: Exercises and stretches can help maintain muscle strength and flexibility, and may also improve mobility and reduce the risk of contractures.
• Assistive devices: Braces, wheelchairs, and other assistive devices can help individuals with DMD remain mobile and independent.
• Respiratory support: As the disease progresses, breathing difficulties may become more severe. Mechanical ventilation, cough assistance devices, and other respiratory support can help manage these symptoms and improve quality of life.
• Cardiac management: Heart problems are a common complication of DMD, and may require medications or other treatments to manage.

Research:

There is ongoing research aimed at developing new treatments for DMD. Some promising approaches include:

• Gene therapy: Researchers are exploring the use of gene therapy to replace or repair the faulty dystrophin gene in individuals with DMD.
• Exon skipping: Exon skipping is a technique that involves skipping over the faulty portion of the dystrophin gene to allow the production of a partially functional dystrophin protein.
• Stem cell therapy: Stem cell therapy involves transplanting healthy stem cells into the body to help repair damaged muscle tissue.

Conclusion:

Duchenne muscular dystrophy is a devastating disease that affects thousands of individuals and their families worldwide. While there is currently no cure for DMD, there are several treatments available that can help manage the symptoms of the disease and improve quality of life. Ongoing research holds promise for the development of new and more effective treatments in the future.