Duchenne Muscular Dystrophy

560 Words Feb 23rd, 2018 2 Pages
One would be that no one would have to live with the muscular dystrophy disease or any disease,” –Mattie Stepanek. Mattie was just one of the many unfortunate children diagnosed with a muscular dystrophy. The most severe of them all is Duchenne Muscular Dystrophy also known as DMD. Duchenne Muscular Dystrophy is caused by a defect or a mutation in the DMD gene located in the X chromosome. This gene provides instruction for a protein that helps muscle tissue repair itself known as dystrophin. The absence of this protein is thought to be the cause of all types of muscular dystrophy. The genetic explanation of the defective gene is simple: males have one X and one Y chromosome and females have two X chromosomes, so when a female inherits the mutated gene she has another unchanged X chromosome make her asymptomatic or showing no symptoms or evidence of a disease or disorder. A female with one mutated and one normal gene is labeled a carrier and each child of hers born has a one in two chance of inheriting the gene. On the other hand, males have no extra X chromosome, so they have no protection against the symptoms. Because of these conditions, DMD is classified as an X-linked disorder and this is why DMD only affects boys. Duchenne Muscular Dystrophy shows its first symptoms in a boy’s early childhood, usually in preschool. The weaknesses of the skeletal and muscular systems start in the pelvis and progress…

More about Duchenne Muscular Dystrophy