How Do You Spell DUCHENNE MUSCULAR DYSTROPHY?

1. Duchenne Muscular Dystrophy (DMD), named after the French neurologist Guillaume-Benjamin-Amand Duchenne, is a rare genetic disorder that primarily affects males. It is characterized by progressive muscle degeneration and weakness, leading to significant physical disability and ultimately impacting the lifespan of individuals affected.

   DMD is caused by mutations in the dystrophin gene, which instructs the production of the dystrophin protein. This protein plays a crucial role in maintaining the structural integrity of muscles. In individuals with DMD, the absence or abnormality of dystrophin leads to muscle cell instability and damage. This damage gradually weakens the muscles, impairing their ability to contract and resulting in the loss of muscle tissue over time. Symptoms typically appear in early childhood, with affected children often showcasing delayed motor milestones, such as difficulty walking or running, frequent falls, and enlarged calf muscles.

   As the disorder progresses, individuals may experience difficulties in breathing, decreased mobility, and the need for mobility aids. Additionally, DMD can affect the heart and other organs, leading to serious complications. Currently, there is no cure for DMD, but there are interventions and therapies available to manage symptoms, improve quality of life, and delay disease progression. Research efforts continue to focus on developing innovative treatments and potential gene therapies to address the underlying cause of the disorder and provide better outcomes for individuals with DMD.

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