Understanding X Linked Inheritance

Duchenne Muscular Dystrophy: An X-Linked Genetic Disorder

Understanding X-Linked Inheritance

Duchenne muscular dystrophy (DMD) is a genetic disorder that affects muscle function. It is inherited in an X-linked recessive pattern, meaning that the gene responsible for the disorder is located on the X chromosome. Males, who have only one X chromosome, are typically affected by DMD, while females, who have two X chromosomes, are usually carriers.

Causes of DMD

The DMD gene provides instructions for creating a protein called dystrophin, which is essential for muscle function. Mutations in the DMD gene disrupt the production of dystrophin, leading to progressive muscle weakness and degeneration. The severity of DMD can vary depending on the specific mutation in the DMD gene.

Symptoms and Treatment

Symptoms of DMD typically appear in early childhood and include difficulty walking, running, and climbing stairs. As the disorder progresses, muscle weakness can affect other areas of the body, including the arms, legs, and respiratory system. There is no cure for DMD, but treatments can help manage symptoms and improve quality of life.