case study

Case Study
1. Dunchenne muscular dystrophy is a genetic disorder due to progressive weakness and degeneration of muscle cells over time, discovered by Guillaume Duchenne.
2. What you may notice under microscopic view is a mass majority of adipose tissue, rapid growth of Endomysium connective tissue, and deterioration of muscle cells
3. Being diagnosed with the disease would show pelvic muscle being effected first. Early signs of muscular dystrophy would be fatigue or weakness in the gluteal area.
4. James claves were enlarged due to muscles getting replaced by adipose and collagen tissue. This condition is called Pseudo hypertrophy due to connective tissue build up.
5. Creatine Kinase is an enzyme found in skeletal muscle. It is also responsible for transferring phosphate groups to creatine and ADP. In James case the reason why his levels elevated was due to the disease Duchenne dystrophy which destroys the cell membranes and allows Creatine Kinase to flow within the bloodstream. This results in the elevation of enzyme level.
6. A Growers sign is fatigue or weakness to the proximal limbs which effect the lower region of the body. Examples, would be your quad muscles or Gluteus Maximus muscle. In James case his was due to the large amount Creatine Kinase deficiency in the muscle which play a key role in muscle contraction
7. James had lordotic posture early in his growth was due to the Erector Spinae muscles being week by the age of 2, disabling him of standing up straight. As James body maintained his balance his lower torso shifted forward.
8. James developed scoliosis due to him being in a wheelchair for majority of his childhood. Since James confined to a wheelchair his Erector Spinae muscle became week the more his body did not use it. This eventually creates a cure in the spine named scoliosis.
9. It is important for James to calcium fluoride supplement because fluoride will increase the production of osteoblast and calcium is needed to slow down the decrease of bone mass.
10. What is known about Dunchenne muscular dystrophy is muscle weakening disease transferred from the mothers (X) chromosome. Found at the site of the XP-21 on the (X) chromosome shows that this genome is responsible for encoding dystrophin (a protein in muscles) which connects the cytoskeleton of muscle fibers to the extracellular matrix over the cell membrane
11. Contractures are the hardening and shoring of muscles, tissues or tendons, forming a deformity in the body having rigid joints.
12. James is susceptible to repeat lower respiratory tract infections because his respiratory muscle do not allow fully expansion of his lungs. If a person’s lungs do not fully expand they can become easily infected due to a weak diaphragm. How our body get rid or toxin is our lungs is from coughing since James abdominal muscles and diaphragm is weak it makes it complicated for his lungs to get rid of the harmful unwanted toxins in his respiratory system.
13. In some cases in young boys who have Dunchenne Dystrophy have and expectancy to live till ten years of age. Due to advances in respiratory care the life expectancy has risen to 30, and in other cases recorded some people with the disease have live to their 40’s to 50’s. Some common causes of death can be congestive heart failure which is rare, Heart arrhythmias which is also rare, respiratory failure, and progressive disability
Essay
Duchenne muscular dystrophy is a form of muscle disease that weakens the body's muscles and does so very fast. This disease is a defective gene and because of the way it is inherited, only boys are affected. The daughters have a fifty percent chance of being a carrier. Parents usually notice symptoms in their child around the age of six. Some of the symptoms are: fatigue, learning difficulties, intellectual disability, muscle weakness, and progressive difficulty with walking. As of today, there is no cure for Duchenne muscular dystrophy. Treatments that are effective aims to control symptoms to hopefully help the person's life. Steroid drugs are used to slow down how fast muscle strength is lost. Other chemical drugs are used as well along with fish oil, green tea extracts, and vitamin E. Exercise and physical therapy is highly recommended as inactivity can and will only make the disease worse. Speech therapy is also recommended because the muscles in and around the mouth become very weak, too. Orthopedic appliances, such as braces and wheel chairs, and assisted ventilation, which is used during the night, are included in the list of treatments as well.
Scientists are considering using stem cells and gene therapy in the future. It may seem as though there are a lot of options of treatment for those with the disease, but the truth is, there is not. The two types of steroids offered are Deflazacort and Prednisone. Deflazacort is said to have side effects that are not as severe as Prednisone. However, that drug cannot be purchased in the United States. Boys with Duchenne already have weak bones and steroids can exaggerate the rate how fast bone muscle is lost. Even though physical activity is recommended, it is very important to make sure monitor what kind of activity the person/child is doing. For instance, walking downhill or down stairs is more harmful to the muscles than walking uphill or upstairs. A Duchenne boy should never play until he is exhausted. Physical therapists recommend stretching at night to help maintain flexibility. Stretching after a warm shower or bath helps best. It is important to stretch hamstrings, heel cords, calves and wrists every night regardless of how tired or busy the child is. Physical therapists are used to teach parents ways to properly stretch out their son with damaging his muscles. Therapists with knowledge and experience with Duchenne develop the regimen.
Many people have come together to form an organization about boys with Duchenne. Their main reasons for the group are to: spread the news about Duchenne and to raise money to fund research for a cure that will treat the entire disease instead of using treatments that will suppress and ease the symptoms. Future treatments involves stem-cells. Scientists hope to place stem cells without the genetic defect in the patient's muscles so that they may generate working cells and replace the defected ones. Scientists are also trying to use a stem cell that will reduce inflammation because inflammation speeds up muscle loss.
Thus, Duchenne muscular dystrophy is very difficult to treat, cure, and fully understand. In the next ten years, scientists will be using a combination of stem cell based approaches to hopefully cure this disease. This disease does not have enough options for treatments as of now and families have come together to help beat the disease. Scientists will also explore other therapeutic methods and maybe combine the two methods to develop the perfect cure to for very difficult disease.

Resources
CureDuchenne: DuchenneCare. (n.d.). CureDuchenne: DuchenneCare. Retrieved April 24, 2014, from http://www.cureduchenne.org/duchennecare

Muscular dystrophy: how could stem cells help?. (n.d.). EuroStemCell. Retrieved April 27, 2014, from http://www.eurostemcell.org/factsheet/muscular-dystrophy-how-could-stem-cells-help