Muscular Dystrophy is a collective term for a group of inherited, progressive genetic disorders characterized by the gradual degeneration and weakness of skeletal muscles, often due to defects in muscle proteins like dystrophin. The chronic loss of functional muscle tissue leads to increasing disability and, eventually, systemic complications affecting multiple organs. While primarily a genetic condition, the disease course and muscle integrity are significantly influenced by the body’s anabolic hormonal environment and inflammatory status.
Origin
The term is derived from the Greek roots mys meaning ‘muscle,’ dys meaning ‘bad or difficult,’ and trophe meaning ‘nourishment.’ It was first clinically described in the mid-19th century, recognizing the progressive wasting of muscle tissue despite adequate caloric intake. The identification of specific gene mutations, such as the Duchenne form, solidified its genetic etiology and opened avenues for gene therapy research.
Mechanism
The underlying mechanism involves a genetic mutation that compromises the structural integrity of the muscle fiber cell membrane, often by disrupting the dystrophin-glycoprotein complex. This structural weakness makes the muscle fibers highly susceptible to damage during contraction, leading to cycles of necrosis and failed regeneration. The resulting chronic inflammation and inability to effectively utilize anabolic signals, such as IGF-1 and testosterone, further accelerate the replacement of functional muscle tissue with non-contractile fibrous and fatty tissue.
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