Duchenne Muscular Dystrophy (DMD) was first discovered by Guillaume Benjamin Amand Duchenne, a French scientist in the 1860s. In 1986 and 1987, breakthroughs were made leading to the cause of the disease being discovered. A team funded by the Muscular Dystrophy Association found that the mutation happened in the X chromosome, which means that it is a sex-linked disease. DMD is also a recessive trait. When mutated in a certain way, the protein dystrophin is produced less. It was discovered that when the protein was not present in the muscle tissue, the muscle became fragile. Fatty tissue and fibrotic material also form on the muscle as a result of DMD.
Who Can be Affected?
There are two diseases caused by having a scarcity of dystrophin. The first is Duchenne Muscular Dystrophy (DMD). This disease usually shows up by the age of five, but can occur as early as three years old. The disease will almost always occur in males, but there have been rare cases of females with the disease. The reason for this is that the gene mutation occurs in the X chromosome, and males only have one copy. If a female has the disease in one of her X chromosomes, the body is set to default to use the other, properly functioning X chromosome. The second disease is Becker Muscular Dystrophy (BMD). This disease happens when the body produces more dystrophin than in DMD, but not enough for the muscles to function properly. The onset of BMD usually occurs anywhere between the early teens to the mid-twenties. Like DMD, BMD occurs primarily in males.
Every muscle is affected by DMD and BMD. Your muscles are weakened and fragile, often causing the affected individuals to need a wheelchair. The muscles develop fatty tissue on them, further weakening the system. Respiratory failure is also common, due to a weakened diaphragm. Finally, Heart issues are common, because the heart is just a cluster of muscles.