DUCHENNE MUSCULAR DYSTROPHY (DMD)

Duchenne Muscular Dystrophy (DMD) is a severe and progressive genetic disorder that primarily affects males. It is one of the most common types of muscular dystrophy, affecting approximately 1 in 3,500 boys worldwide. DMD results from mutations in the DMD gene, which encodes dystrophin, a protein critical for maintaining the structural integrity of muscle cells. Without dystrophin, muscles gradually weaken and deteriorate, leading to significant physical disabilities.

Symptoms of DMD usually appear in early childhood, typically between the ages of 2 and 5. Early signs include delays in walking, frequent falls, difficulty running, and challenges in climbing stairs. Children with DMD often develop a distinctive "waddling" gait and use the Gower's maneuver to stand up, where they push off their legs with their hands to rise from the floor. As muscle weakness progresses, it affects the muscles in the hips, thighs, shoulders, and eventually the arms and respiratory system. Most individuals with DMD lose the ability to walk by their early teens and require wheelchairs for mobility.

DMD is inherited in an X-linked recessive manner, meaning the defective gene is located on the X chromosome. Since males have only one X chromosome, a single copy of the mutated gene causes the disease. Females can be carriers of the mutation but are less likely to be affected due to having two X chromosomes.

There is currently no cure for Duchenne Muscular Dystrophy, but treatment options have improved. Corticosteroids are commonly used to slow muscle degeneration and maintain mobility for as long as possible. Physical therapy, orthopedic devices, and surgical interventions can help manage complications. In later stages, respiratory support becomes necessary, as weakened diaphragm muscles make breathing more difficult.

Recent advances in research are promising, particularly in gene therapy, exon skipping, and other molecular treatments. These emerging therapies aim to address the underlying genetic cause of DMD, offering hope to patients and families affected by this challenging condition. While there is still much work to be done, ongoing research is a beacon of hope for those living with Duchenne Muscular Dystrophy.

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