Duchenne Muscular Dystrophy

1. The meaning of Duchenne muscular dystrophy is a severe form of muscular dystrophy caused by a genetic defect that can be characterized by a disturbed growth of cardiac and skeletal muscles. It usually affects boys. In 1861, a French neurologist, Guillaume B. Duchenne, was the first person to give a detailed description of this syndrome.

Duchenne muscular dystrophy is a gender-linked inherited disorder. To illustrate, males only have one X chromosome, therefore they do not have a second X chromosome to make up for the damaged gene. Females can only become carriers of the disease, as females have a second X chromosomes to make up for the damaged gene.

DMD also only affects males, but women can unknowingly be carriers of the disease. They may not know they carry it if they have no brothers or were adopted.

Duchenne muscular dystrophy was first discovered by Guillaume Benjamin Amand Duchenne in the 1860’s, but due to lack of medical knowledge little was known until the 1980’s. It was in 1986 that researchers that were supported by the MDA, muscular dystrophy association, identified the particular X-chromosome that leads to DMD, Duchenne muscular dystrophy. Dystrophin is the protein that is associated with the gene and was named in 1987.The DMD gene is the second largest gene to date, and it produces dystrophin.(Genome, 2013) Lack of the protein Dystrophin in the muscle cells causes them to weaken and become fragile. (MDA, 2015). DMD is an inherited disorder, but there are rare cases where it can spontaneously appear in a child with no previous family history due to a random mutation in moms X-chromosome. DMD is a gender specific disease that only appears in males.

This rare disease affects 1 in 3,500- 6,000 males. A key indicator a child has Duchenne is muscle weakness. This means a child may have difficulty getting up after sitting down and difficulty walking. Often times kids with Duchenne are walk on there toes and can

However, if Ben’s parents have decided to have other children, their children run the risk of having DMD or being a carrier of DMD. There is no way to reduce these risks, but there is a chance that their children will not have the same problems as Ben.

Duchenne Muscular Dystrophy is a genetic disorder that is passed on through the x chromosomes. Only men are

Duchenne Muscular Dystrophy, referred to as DMD, is the most severe form of all muscular dysrophies. It is rapidly progressive and occurs primary in boys. DMD is caused by a recessive mutation in the X chromosome. It can be inherited by either parent however, it can also be present with no family members having the mutation. DMD is caused by a lack of dystrophin. Dystrophin is a protein found in muscles that enables the muscle tissues to repair themselves.

Duchenne Muscular Dystrophy (DMD) is a fatal genetic disorder that is caused by mutations in the gene DMD, which encodes the muscle protein, dystrophin. Dystrophin protein is crucial to preserve the strength, stability, and flexibility of muscle fibers, which protects them from injury as they contract and relax. The DMD gene is primarily located in skeletal and cardiac muscle. Duchenne Muscular Dystrophy is caused by mutations in the gene that produce premature stop codons. The premature stop codons work to bring protein synthesis to a halt, resulting in a greatly shortened and nonfunctional form of dystrophin (Pierce, 2013, pg. 286). According to the Muscular Dystrophy Association (2016), “Individuals with DMD experience rapid progressive

Duchenne Muscular Dystrophy has the potential to be inherited from previous generations (National Human Genome Research Institute, 2013). The disease is sex-linked and inherited on the X chromosome in a recessive fashion. Males who only have one X and one Y chromosome

Individuals who inherit this disease will have a rapid progression of symptoms. Walking becomes difficult and skeletal contractures and muscle atrophy follows. They also usually need wheelchairs by adolescence. Half of the receivers of the disease unfortunately develop some form of mental retardation and most never make it past their teenage years. Currently, options for a treatment of muscular dystrophy are limited. Physical therapy may slow down the progression of deformities. Such devices as wheel chairs, crutches, or secondary orthopedic limbs may permit mobility. There are also a few medications that can help relieve pain and stiffness in the muscles. The Muscular Dystrophy Association, the Parent Project Muscular Dystrophy Research and the Children's Hospital of Pittsburgh helped fund a research project for the disease. The research, carried out by Johnny Huard, Ph.D., is looking fairly successful. Scientists are isolating special

The cause of Duchenne Muscular Dystrophy is the occurrence of mutations in the Dystrophin (DMD) gene. The cytogenetic location off the DMD gene is Xp21.2; meaning at location 21.2 on the short arm of the X chromosome from base pair 31,119,219 to base pair 33,339,609. DMD is the biggest human gene currently known and instructs for the production of a 427 kDa protein by the same name. The dystrophin protein is part of the dystrophin associated protein complex which is expressed at the sarcolema and anchors muscle cellcytoskeletons to the extracellular matrix in skeletal and cardiac muscle,

DMD is an X-linked recessive chromosomal that affects 1 in 5,000 males (Yiu and Kornberg). DMD rarely affects females and when they are affected the severity of the disease is much milder than the male cases (Bushby, Finkel and Birnkrant). The mother is the carrier of the DMD gene in 2/3 of cases and can be genetic. The remaining 1/3 of cases are spontaneous mutations that occur in the mother’s egg (Wong, McClaren and Dalton). Males have a 50% chance of inheriting the mutated gene from their mother and presenting with DMD, daughters have 50% chance of inheriting the gene and being a carrier (carriers may not show symptoms but can pass the mutated gene on to their offspring). Fathers cannot pass the gene on to their sons but will pass it on to their daughters (The Muscular Dystrophy Association). The mutation in the DMD gene disrupts dystrophin production. Dystrophin is a protein that is responsible

Duchenne Muscular Dystrophy has the potential to be inherited from previous generations (National Human Genome Research Institute, 2013). The disease is sex-linked and inherited on the X chromosome in a recessive fashion. Males who only have one X and one Y chromosome are most commonly affected

Duchenne Muscular Dystrophy (also referred to as DMD) is a type of muscular dystrophy that weakens the muscles that we need to support our body, body weight, to stand, and to move around. It also can cause you to have scoliosis. Some of the main causes for DMD are genetic disorders, mutations, and DMD has to be passed down throughout everyone in that family for generations. The symptoms you can have if you have DMD are weak muscles, lack of strength, and difficulty walking. DMD is a negative mutation because it affects your muscles horribly bad that you can get a disability of walking and even moving. You need to tell your doctor immediately if you experience any symptoms. If you don't tell your doctor, you may find yourself in a very difficult situation where you can't get up or can't get something you need. When you do talk to your doctor, you will have an advantage of getting the help you need.