Dmd Research Paper

Muscular dystrophy is a degenerating disease, in which the skeletal muscles degenerate, lose their strength, and cause increasing disability and deformity. Muscles attached to the bones through tendons are responsible for movement in the human body, however, in muscular dystrophy the muscles become progressively weak. As the muscle fibers

As you can see genetic testing is very important and can affect a child's and parents lives for the better and the worst. Children all over the world have serious genetic diseases that affect their life on a daily. Some of these diseases are Achondroplasia, Down syndrome, and Turner's syndrome. Many believe genetic testing is a good way to test for these genetic conditions before the child is even born, but others think that it can harm the baby very badly and even cause a miscarriage, so they choose not to do this kind of testing. Knowing about the most serious genetic diseases is very important for expecting parents to be informed as well as being

Even though there are no cures, there are some treatments to slow down the progression of Ben’s DMD. Ben can take certain supplements that will help him function better. One of them is beta-Hydroxy beta methylbutyric acid (HMB). This is an amino acid that helps slow down the degradation of a person’s muscles. However, this has not been studied on DMD. Haelan is another supplement that Ben can take. It will boost Ben’s immune system and give him more energy overall, which will help him live with his condition. Again, this has not been directly tested on DMD. Deflazacort is an over-the counter drug that has anti-inflammatory properties that will preserve Ben’s muscles. This has been proven to prevent/ delay scoliosis as well. Ben could also take Q-10. This is a coenzyme that many people with DMD lack. It will help his cells function

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

Nowak KJ, & Davies KE. (2004). Duchenne muscular dystrophy and dystrophin: pathogenesis and opportunities for treatment. EMBO Reports, 5(9), 872-876. doi:10.1038/sj.embor.7400221

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).

Muscular dystrophy (MD) is a rare, progressive disease relating to the weakening of skeletal muscles. There are more than 30 types of muscular dystrophy that are further divided into nine categories. Duchenne MD is the most common and acute form of this condition that accounts for 50% of all the cases. Duchenne MD (DMD) is most prevalent in males, between the ages of 3 and 5 (Norwood, FL, et al. 2009). This X-linked disease occurs for 1 in every 3,500 males, which results in confinement to a wheelchair (Blake et al., 2002). Becker MD (BMD) is a less severe type of this condition. A study conducted in the United Kingdom by Bushby, Thambyayah and Gardner-Medwin, the incidence of Becker MD was estimated to be 1 in 18,450 males at birth

Duchenne muscular dystrophy is a genetic disease that pertains only to males caused by a defective gene and normally leads to many problems affecting a child’s leg movement. This disease got its name from the neurologist, Guillaume Benjamin Amand Duchenne. He was a very consistent doctor who followed many patients medical records. He diagnosed one of his patients with muscular dystrophy and then the disease picked up his name, due to his founding.

Duchenne’s muscular dystrophy (DMD) is a progressive genetic disorder that leads to muscle atrophy and eventually death. Diagnosing DMD consists of blood tests, genetic testing, and muscle biopsies. Signs and symptoms begin presenting in toddlers with DMD and progressively worsen throughout life. There is no cure for DMD, and will cause terminal cardiopulmonary complications. Medical interventions consist of corticosteroid treatment, respiratory management, cardiac management, psychological management, and physical therapy interventions.

Opposition Defiant disorder, also known as (ODD), can be classified as disruptive behavior disorder (DBD). This type of disorder represents a persons inability to control their emotions or behaviors. Individuals diagnosed with ODD tend to be hostile, vindictive, and may display irritability. Adolescents with Odd tend to display a pattern of angry outburst, arguments, disobedience, etc. toward other individuals such as parents, teachers, classmates, friends, or other authority figures. Symptoms of ODD tend to decrease as adolescent’s age, and problems generally are not long lasting.

Prior to the 1980s, there was minimum knowledge relating to the causes of muscular dystrophy. However, in 1986, researchers discovered a gene, soon to be named dystrophin, on the X chromosome. The gene, when mutated, reacted by causing Duchenne muscular dystrophies. During 1987, the protein in relation to the gene discovered a year early was officially classified and named dystrophin. Duchenne Muscular Dystrophy (DMD) develops due to the mutated gene failure to supply active dystrophin. This minimum amount of dystrophin affects the body by developing muscle damage and continued weakness from early life.

Duchenne muscular dystrophy (DMD) is caused by a mutated gene in the X chromosome. This flawed genes is passed on by the mother. However, most carrier of the gene do not show signs or symptoms of the disease. The The flawed gene causes the improper production of the protein dystrophin which is accompanied by “defective dystrophin-glycoprotein complex (DGC) in the sarcolemma and leads to progressive muscle degeneration” (Nakamura & Takeda, 2011). The Dystrophin protein is vital in providing a muscle integrity. Therefore, the absence of dystrophin production can lead to muscled atrophy.

Muscular dystrophy can be diagnosed with a physical exam and diagnostic testing completed by the child’s pediatrician. Additional information that will be obtained during the examination will be family history, pregnancy history, and birth history. Diagnostic studies for muscular dystrophy include muscle serum enzymes (especially creatine kinase), electromyogram (EMG) testing, muscle fiber biopsy, electrocardiogram abnormalities reflective of cardiomyopathy, and genetic pedigree (Lewis, 2011). Duchenne muscular dystrophy is caused by the lack of dystrophin. A muscle biopsy can be done to confirm a diagnosis of muscle dystrophy. The biopsy will show evidence of significant fat and connective tissue deposits, deterioration and necrosis of muscle fibers, and a lack of the muscle

The coexistence of the uncommon disease known as Duchenne Muscular Dystrophy or DMD, has come to the attention of many and has manifested within this document to generalize the history, impact, and significance of the disease. The history of DMD stemmed from the progressive muscular dystrophy of two 10-year-old boys names Conte and Gonji in 1836. Since this becoming the first historical account of such a disease, many doctors and specialists speculated a more catastrophic form of tuberculosis; when revisited by scientists it was concluded that they suffered from the milder Becker MD. In 1852, Meryon reported in striking points of interest a family with four young men, every one of whom were influenced by huge muscle changes, however had no

This would mean that this testing would be more affordable for the commoner. Once testing has been completed and data interpreted, someone will know if they are a carrier for a genetic disorder. If it turns out that they are, instead of waiting for symptoms to arise, genetic treatment of the disease can be done to save the person’s life before it is even in jeopardy. This could prove to be very helpful. People spend thousands of dollars on treatments for a genetic disorder, and the treatments do not even fully rid the patient of the disease. The patient will have to take the medication for the rest of their life to calm the symptoms of that disease. With the advancement of gene therapy, a patient could receive a minimal number of treatments which will not just calm the symptoms but rid the patient of their genetic disorder completely. This, in the long run, could save the patient time, money, suffering, and ultimately it will save their life. This is only the beginning. As time passes, doctors will have the knowledge to save many more lives in the same manner.