Case Study Duchenne Muscular Dystrophy

For as long as I can remember, my brother would fall down often. I never really thought much of it while growing up, he was just my clumsy older brother. I noticed he was different from my friend’s older brothers but I never really cared because I always loved the way he was.

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.

Boys begin to have difficulty sitting up and standing, weakness that progresses to muscles in the trunk and shoulder, and later affecting the heart muscle. By the age of twenty years individuals affected with Duchenne dystrophy die.

Spinal Muscular Atrophy is classify as an interneuron abnormality and loss of the anterior horn cells in the spinal column. SMA is categorized into three subtypes with the classification embedded on the motor milestone achieved. Spinal type I (Werdnig-Hoffman disease) child is to weak that they never learn to sit, type II child learn to sit but never learn to walk without assistive device, and type III (Kugelberg-Welander disease) child can walk independently (Tecklin, 2015).

Duchenne Muscular Dystrophy is also the most common type of muscular dystrophy in kids, children who are affected by the disease will most likely be in a wheelchair by the time they are 12, and are likely to die anywhere from their late teens to early twenties ( Yiu and Kornberg, 2008, p. 236).

Duchenne muscular Dystrophy (DMD) is the most common out of nine types of muscular dystrophy. This genetic disorder causes progressive muscular weakness, and deterioration due to the lack of a protein called Dystrophin. This protein keeps the muscles in tack, so when it's missing, the muscles slowly break down. (MDA, 2015)

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.

muscular dystrophy has many forms and therefore symptoms can vary between the variations. Overall symptoms include the weakening of skeletal muscles and the defect and death muscle tissues. Duchenne muscular dystrophy is the most common and affects young boys such as Eddie.

Duchenne Muscular Dystrophy is a sex-linked disease, which is inherited in a recessive fashion (National Human Genome Research Institute, 2013). Over thirty similar genetic disorders exist (Duchenne Foundation Australia, 2015). All types of muscular dystrophy are considered to be a rare disorder (Duchenne Foundation Australia, 2015). Duchenne Muscular Dystrophy is most common in children and causes muscle weakness and wasting, which commonly begins in the lower limbs (Duchenne Foundation Australia, 2015; National Human Genome Research Institute, 2013). The disease itself is caused by changes to the DMD gene, which is responsible for providing instructions regarding the creation of the dystrophin protein in one’s muscles (Duchenne Foundation Australia, 2015). This protein is responsible for protecting muscles from damage, and without it the cells of a person’s muscles deteriorate and symptoms of Duchenne Muscular Dystrophy are exhibited (Duchenne Foundation Australia, 2015). The disease results from changes in the DMD gene, or other genetic changes in a child (Duchenne Foundation Australia, 2015).

Duchenne Muscular Dystrophy is an X-linked genetic disorder caused by a genetic mutation in the dystrophin gene. The disorder is recessive, therefore males are more at risk for displaying the mutation than women. However, women can be carriers and have mild effects. Duchenne Muscular Dystrophy affects the neuromuscular systems, which can result in deterioration of muscles and eventually death.1 The disorder usually presents itself in early childhood, and can affect the respiratory and cardio systems. The disease can cause spinal problems, respiratory problems, intellectual disability, and cardiac disease which is the main cause of death.4

Duchenne Muscular Dystrophy is a sex-linked disease, which is inherited in a recessive fashion (National Human Genome Research Institute, 2013). Over thirty similar genetic disorders exist (Duchenne Foundation Australia, 2015). All types of muscular dystrophy are considered to be a rare disorder (Duchenne Foundation Australia, 2015). Duchenne Muscular Dystrophy is most common in children and causes muscle weakness and wasting, which commonly begins in the lower limbs (Duchenne Foundation Australia, 2015; National Human Genome Research Institute, 2013). The disease itself is caused by changes to the DMD gene, which is responsible for providing instructions regarding the creation of the dystrophin protein in one’s muscles (Duchenne Foundation Australia, 2015). This protein is responsible for protecting muscles from damage, and without it the cells of a person’s muscles deteriorate and symptoms of Duchenne Muscular Dystrophy are exhibited (Duchenne Foundation Australia, 2015). The disease results from changes in the DMD gene, or other genetic changes in a child (Duchenne Foundation Australia, 2015).

Duchenne’s muscular dystrophy is one of the most common forms over childhood muscular dystrophy and primarily affects boys; in total there are 30 different forms of muscular dystrophy 50% being duchenne’s muscular dystrophy (NIH, 2013). This type of muscular dystrophy usually begins to show symptoms around the pre-school age and affects the lower extremities first. By the age of twelve, most boys are in a wheelchair as the trunk muscles being to weaken leading to scoliosis and kyphosis. Eventually the diaphragm begins to weaken and young men with Duchenne’s muscular dystrophy will need assistance with breathing through the use of a ventilator (Naff, C. 2012). According to the 1st Edition of Perspectives on Disease and Disorders Muscular Dystrophy by the age of eighteen most young men would have experienced a cardio myopathy (weakening or the heart muscle) (Naff, C. 2012). Duchenne’s muscular dystrophy (DMD) is a chromosome X-linked and genetically inherited neuromuscular disease. The New England Journal of Medicine reports that Duchenne’s muscular dystrophy affects 1 in 3500 new born baby boys. Duchenne’s

The ability to walk is something that our society seems to take for granted. A neuromuscular disease can take that ability away instantly. As with any neuromuscular disease, the body’s muscles are specifically attacked. Normally that attack is caused by a lack or mutation of a specific gene. Duchenne Muscular Dystrophy (DMD) has a direct relationship with a lack of dystrophin synthesis. It is possible that the dystrophin synthesis can be increased by manipulation of microRNA-31.

Duchenne Muscular Dystrophy (DMD) is a lethal genetic X-linked disease results from the mutation in the reading frame of the dystrophin protein, and it affects mostly boys in their muscle and cardiopulmonary function. Although there are no effective treatments to cure DMD patients right now, scientists consistently explore more methods to come up with the practical treatments. One of the most popular and valid approaches is a gene-editing therapeutic method – CRISPR/Cas9 Genome Editing. It adapts from the natural systems in bacteria, and it can generate targeted gene modifications to target specific DNA sequence. Then it introduces shifts within exons to restore the reading frame, so it can express a partial functional dystrophin protein.

All people have come across challenges, some challenges can be conquered and some of them cannot. My challenge was given to me when I was born and that challenge is a disability called muscular dystrophy. Muscular dystrophy is a group of genetic diseases that cause continuous weakness of the muscles, so in other words I lose strength as time flies by. I started to notice weakness in my early childhood, when I was ten years old. An example of me noticing my disability starting to kick in was when I was running for physical education, and I felt like I was connected to a parachute. As the years went by things that took physical strength started to get harder. For example, running, walking, lifting objects, and getting up off of chairs. I was diagnosed with muscular dystrophy when I was about thirteen years old. This disability is a challenge for me because it gets in the way of me doing many things that other people with the strength can do.