What is Muscular Dystrophy? Signs and Symptoms

MD is a group of genetic diseases that weaken muscles and cause them to break down. It is a degenerative disorder in which the muscles become progressively weaker, may become stiff or painful, and may have difficulty functioning, requiring assistance. This deterioration is due to the loss of the proteins that are necessary to keep muscles strong, healthy, and functional. When these proteins break down, the muscles gradually weaken and die, increasing the risk of injury. MD most commonly affects the muscles used for movement – including the muscles in the arms, legs, hands and feet. It can also affect the muscles that people use for breathing and the heart. The most common types of MD occur when there is a breakdown of the proteins needed to build muscle tissue. MD is typically diagnosed between the ages of two and five. While there is no cure for the disease, there are treatments that can help control symptoms and prolong life expectancy.


Duchenne and Becker Muscular Dystrophy

Duchenne and Becker MD are the two most common types of muscular dystrophy, and they are caused by mutations in the same gene. The gene responsible for making dystrophin, a protein crucial to the structure and function of muscle tissue. Dystrophin is also known as a “mighty mini-molecule” because it forms a bridge between the inside of a cell and its surrounding environment. It is responsible for stabilizing the cell’s internal structure and external surface. These two disorders are X-linked genetic diseases. This means that males are more likely to develop the disease because they have an X chromosome. Females have the X chromosome and another Y chromosome. If a female has a mutation in one of the X chromosomes, it is often compensated for by the Y chromosome.


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