Research Paper On Duchenne Muscular Dystrophy

The mother, who is a carrier, inherits an X-Linked or sex-linked faulty gene. The result is producing an affected son and or a daughter being a carrier. The second way is an affected male producing children, particularly daughters. All daughters born to fathers with x-linked muscular dystrophy will be carriers; on the contrary their sons will be unaffected. Scientists link this to a genetic mutation in the gene, appearing most often for the first time in a family.

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.

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.

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

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

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.

Genetics is a key factor in potentially developing a form of muscular dystrophy, as it is caused by a gene that protects muscle fibers suddenly becoming defective. However, this particular genetic mutation can abruptly occur while an embryo is still developing in the egg of the mother. Muscular dystrophy can occur in an individual of any age, sex, or race. The most common form of MD diagnosed, Dechenne, is most often found in males of a youg age. However, family history of the disease is the biggest risk factor associated with developing it.

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

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’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

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.

Located on the X chromosome lies a gene whose improper function would take from us what we often sloppily overlook -- our mobility. The freedom to dance with poise, to run with agility, to dress one’s self, to bend over and scoop a dropped pencil off the floor are all motions which are only dreamt of by those with Duchenne Muscular Dystrophy. An X-linked recessive disorder which can be exhibited in both males and females, DMD is most prominent in males, affecting 3500 boys in the world (McKusick). DMD affects muscle -- skeletal, smooth, and cardiac -- by causing degeneration (McKusick). Diagnosis occurs around five years old, and by age ten, a wheelchair is often necessary for the patient. The skeletal

Children who have DMD have mobility problems and are usually wheel chair dependent between ages 4 to 10. Overtime, the loss of dystrophy can lead to cardiomyopathy due the degeneration of the heart muscle. Muscles on the lungs and diaphragm can also weaken which can lead to poor respiratory health. This can lead to “shallow and labored breathing and a build-up of mucus and bacteria. As a result, children with DMD are prone to severe chest infections” (Pearce, 2012). The decrease of oxygen in the blood can affect sleep and can lead to difficulty in concentrating and staying

Duchenne Muscular Dystrophy is one of the most severe yet common cases of Muscular Dystrophy that occurs mainly in boys of younger age. Guillaume Benjamin Amand Duchenne, who was a French neurologist, was the first to discover this disorder in the 1860s (Emery, 2008, pp. 25). This disease is an X-linked disorder which affects the skeletal system, and causes rapid muscular weakness and heart muscle problems. It’s stated that 1 out of every 3,600 males will be diagnosed with Duchenne Muscular Dystrophy (Bushby, 2009, pp.1). According to the Muscular Dystrophy Association, symptoms usually begin to show between the ages of 3 to 5 years old. (pp. 1) Some of the symptoms may include delayed in walking, regularly falling, learning difficulties,

The cornerstone of modern medicine is the ability to treat an illness in the absence of a concrete cure. In the case of detrimental diseases such as cancer or HIV, the lack of a cure has not impeded the progress of treatment and prolonging of life. However, there does exist a disease which until recently had no significant treatment: Duchenne Muscular Dystrophy (DMD). Modern gene therapy has provided a chance to cure this illness. DMD is a sex linked disease affecting 1 in 3500 male births. It is caused by a mutation in the dystrophin gene, which is needed for proper skeletal muscle function. The Dystrophin Gene is the largest known human gene, located on the short arm of the X chromosome specifically at the genetic locus XP21. It is composed