Duchenne Muscular Dystrophy

Duchenne muscular dystrophy (DMD) is a genetic disorder that primarily affects boys and is characterized by progressive muscle weakness and wasting. It is caused by a mutation in the dystrophin gene, which codes for a protein called dystrophin that is important for maintaining the structural integrity of muscle fibers. Without sufficient dystrophin, muscle fibers become damaged and eventually die.

The symptoms of DMD usually appear in early childhood and may include:

1. Delayed motor milestones, such as walking and running
2. Frequent falls and difficulty getting up from the floor or from a seated position
3. Difficulty climbing stairs or standing up from a seated position
4. Progressive muscle weakness and wasting, particularly in the legs and pelvis
5. Contractures, or tightening of the joints, which can make movement more difficult

Some common treatments for DMD include:

1. Corticosteroids: Corticosteroids, such as prednisone and deflazacort, are medications that can help slow the progression of muscle weakness and wasting in DMD. They work by reducing inflammation and improving muscle strength.

2. Physical therapy: Physical therapy can help maintain muscle strength and flexibility, and improve mobility and independence. A physical therapist can develop an exercise program tailored to the individual's needs and abilities.

3. Mobility aids: Mobility aids, such as wheelchairs, scooters, and braces, can help individuals with DMD move around and maintain their independence. They can also help prevent falls and other injuries.

4. Respiratory therapy: Respiratory therapy may be needed to help manage breathing difficulties, particularly at night or during sleep. This may include the use of a breathing machine or oxygen therapy.

Duchenne Muscular Dystrophy (DMD) is a genetic disorder caused by a mutation in the DMD gene on the X chromosome. The DMD gene codes for the protein dystrophin, which is an essential component of the muscles that helps to maintain their structure and function.