Genetic Disorder Research Paper

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.

First Main Point: Duchenne Muscular Dystrophy is an awful disease that absolutely needs new treatment options.

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 (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 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

The Duchenne muscular dystrophy is not easy because we depend on our legs and lower body so much but, unfortunately no one has found a cure for it. It has been proven over time and trials that a few medications help slow the course or intensity of the disease. Another idea that has also shown improvement of muscular dystrophy was physical therapy. It is still being researched and doctors are looking for a cure that will end the disease in the future.

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 (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.

When a son is born to his mother, with a dystrophin mutation on one of her two X chromosomes has a chance of inheriting the flawed gene, and also having DMD. As for the daughters,

Males are affected way more often than females because the mutation of the gene occurs on the X chromosome. Since males only have one X chromosome if that chromosome is mutated then the signs and symptoms of muscular dystrophy show up and because females have two X

Muscular dystrophy (MD) is a group of genetically transmitted diseases characterized by progressive symmetric wasting of skeletal muscles without evidence of neurologic involvement (Lewis, 2011). There are four different types of muscular dystrophy. The four types are Duchenne, Becker, Landouzy-Dejerine, and Erb. Duchenne muscular dystrophy is the most common type among children. It only affects boys; it’s passed down from the mother. Duchenne muscular dystrophy is created from X-linked recessive gene from the mother. About one in thirty-five hundred boys are born with Duchenne muscular dystrophy. The boys will experience weakening of the muscles, wasting and contractures and inability to walk by themselves by the time they even reach

Muscular dystrophy is a rare disease. 349 out of 2.37 million males aged between five and twenty-four had Duchenne or Becker muscular dystrophy in 2007. Males are more likely to be affected. It is very rare for females to have the disease.

Duchenne muscular dystrophy has a worldwide distribution, with a mean incidence of 1 per 3,500 male births (Clinical Pediatric Neurology, Pg. 180). The children lead a life ridden with difficulty and physical pain. While kids their age are seen running around playing, these boys rapidly loose functional use of their limbs. There are also many other problems associated with muscle wasting. To be sure that the child has the disease a muscle biopsy is usually done to check for dystrophin levels and confirm that the child does have DMD and not another disorder. Deterioration of

Treatment will very and all depend on the cause of that certain myopathy disease that person has. The goals of myopathy treatment are to slow progression of the disease and relieve symptoms. For muscular dystrophies and inflammatory myopathies they will probably try a drug therapy