Duchenne Muscular Dystrophy: The chromosomal X-linked Disorder

Ayanna Gaston

Biology 203-DA
Dr. McEliece
October 18, 2022
 Duchenne Muscular Dystrophy is a rare human gene disorder of the muscles. (MDA.org).

DMD is when muscle degenerates and weakens due to an alteration of a protein called

dystrophin, which helps keep muscle cells intact. People who have DMD lack dystrophin protein

in muscle cells, causing them to be fragile. This disorder affects children in the preliminary

stages, ages 2 and 3, especially boys, and rarely affects girls. The symptoms are difficulty

jumping, walking, enlargement of the calves, and later, the heart and respiratory muscles are

affected and failing.

The gene that is affected by this disorder is dystrophin. Which is a sex-linked gene. Dystrophin is

known as the largest human gene, located in the muscular used for movement. They are a part of

a protein complex that works together to strengthen muscle fibers and protect them from injuries.

The gene is x linked meaning it is in the X chromosome. The X chromosome is one of the two

sex chromosomes. The gene is considered x-linked because men have only one copy of the X

chromosome, and having one causes the disease. A male can have an x-linked disease, and

cannot pass it to his son, however, the daughter pathogenic variant is in one copy of the gene.

The x-linked inheritance is also recessive. Recessive means there are two copies of the

responsible gene, they must have disease-causing change. If they have x-linked recessive, they

have the disease, man only has one X chromosome while women have two, since man only has

one copy of the gene it is easier for them to get the disease. A woman carrying one x-linked gene

has a 50% chance of having a son with the disease and a 50% chance of a daughter carrying the

x-linked gene variant. A man with an x-linked recessive cannot pass the disease to his sons,

however, his daughter would be a carrier. Having a male child be the first in the family to have

the disease, he might have inherited it from his mother or chance the first time the child.

(Medline Plus).
DMD codes for Dystrophin protein, which is also a cytoskeletal protein. This protein is mutated

and causes DMD because the structure of the gene changed. Dystrophin protein functions

connect signaling molecules outside the cell to signaling proteins within the cell. With the

disease DMD, the muscles are affected and weakened. The treatments for DMD are medications,

one is corticosteroids which help maintain muscle strength. This medication has helped improve

clinical function in children. Another treatment that can help with DMD is therapy and the two

most useful therapies are occupational and physical. Occupational therapy teaches you how to

adapt to DMD patients. They help with living and working skills. Physical therapy improves

mobility, restores function, reduces pain, and prevents further injuries. DMD patients would help

restore muscle strength and function. These are beneficial treatments since DMD is muscle

weakness and they are trying to help with their problem. CDC (Centers for Disease Control)

The history of DMD goes back to the 1860s when Dr. Duchenne de Boulogne was the first to

report the disease. His studies described muscle weaknesses; later he noticed a connection

between the muscle and the brain. Later, in the late 1980's other Doctors Hoffman and Kunkel

discovered that the cause of DMD is a lack of a protein called dystrophin, due to the mutation in

the gene. Other countries found that respiratory support is useful for DMD patients. This disease

was the first to have a genetic cause and a missing protein. In the late 1990s, they use steroids to

treat DMD patients, the use of these steroids has caused a 2–5-year delay.1 In the early 2000s

scientists figured out that it has expanded to young children. (WorldDuchenneDay.org).

In conclusion, Duchenne Muscular Dystrophy (DMD), is an important gene disorder. As

a sex-linked disorder affecting one of the X chromosomes, it affects young males more than

1
females, but it can also affect them rarely. It is an x-linked recessive disorder, which factors in

the dystrophin protein. The symptoms vary from loss of body motion to progressive muscle

weakness. While DMD is untreatable, scientists are still trying to figure out separate ways to

solve the problem.

References

Center of Disease Control and Prevention: Duchenne Muscular Dystrophy Care Considerations | CDC

MDA: Duchenne Muscular Dystrophy (DMD) - Diseases | Muscular Dystrophy Association (mda.org)

National Library of Medicine: 1 Feb. 2017 https://medlineplus.gov/genetics/gene/dmd/

Dechennes Awareness Day: https://www.worldduchenneday.org/history-of-duchenne/