Which condition is characterized by a mutation in the dystrophin gene?

Muscular dystrophy is characterized by a mutation in the dystrophin gene, which is essential for maintaining muscle fiber integrity. Dystrophin is a protein that connects the cytoskeleton of muscle cells to the surrounding extracellular matrix, playing a vital role in muscle function and structural stability. When the dystrophin gene is mutated, it leads to the absence or malfunction of dystrophin, resulting in progressive muscle weakness and degeneration.

This condition predominantly affects skeletal muscles, and depending on the specific type of muscular dystrophy, it can also impact cardiac muscle and other body systems. The most common form, Duchenne Muscular Dystrophy (DMD), typically manifests in early childhood and is associated with significant physical challenges as the disease progresses. Understanding this genetic underpinning helps in the diagnosis, management, and potential therapeutic avenues for those affected by muscular dystrophy.