Duchenne’s muscular dystrophy
Duchenne’s Muscular Dystrophy
Zachary Uecker
Genetic Disease Abstract
Duchenne’s muscular dystrophy is a genetic disease that targets skeletal muscles and over time, the muscles lose protein and are replaced by fats and connective tissue, making the skeletal muscles unusable. In this paper, the parts of Duchenne’s that will be covered are the method of transmission, statistics about Duchenne’s in the population, the pathophysiology, the body systems effected, signs and symptoms, age of onset, treatment/therapy options, psychological factors, prognosis, prevention techniques, ethical considerations, and how genetic counseling may be utilized for patients. Duchenne’s muscular dystrophy
Duchenne’s muscular …show more content…
Mothers who are carriers of the gene may pass the gene to the offspring. In males, the gene will be expressed, and females would become carries, due to the fact that most females do not show any signs or symptoms of Duchenne’s.
Statistics about Duchenne’s in the United States In the United States, the defective gene dystrophin that effects proteins and is found to cause Duchenne’s muscular dystrophy, is present in 1 out of every 3,600 male infants. Since the disease is passed from parent to offspring, the male offspring of a carrier mother has a 50% chance of receiving the trait, and 50% of the female offspring will become carriers of the disease. …show more content…
One of those dilemmas are whether or not the use of gene therapy should be used or not (Dartmouth 1999). Gene therapy is seen in the science community as a way of treatment or a way to find answers to questions that many people would not know. Others on the other hand, see gene therapy as invasive.
How Genetic Counseling is used Genetic counseling is used in many ways in DMD. Expecting parents with DMD in their families are often encouraged to seek a genetic counselor before delivering the baby, so that there may be tests done to know whether or not the child will have DMD. Once the child is born, if they have Duchenne’s, there are ways that the genetics counselor can be used to assist in treatments, such as the myoblast injections.
Conclusion
What I’ve learned about Duchenne’s muscular dystrophy is that it is a disease of the muscles that ultimately leads to a shortened life of every 1/3,600 males. In addition to the muscles being targeted, I learned that death does not just occur from being confined to a wheelchair and having atrophied muscles, the respiratory system eventually shuts down from the lack of muscle in the heart at diaphragm and that is why death occurs. Learning about genetics and specifically DMD, will impact the way I treat patients, because they were born with that specific disease and most of them were probably singled out as kids for not being able to do what other children could, or were
Duchenne’s Muscular Dystrophy
Zachary Uecker
Genetic Disease Abstract
Duchenne’s muscular dystrophy is a genetic disease that targets skeletal muscles and over time, the muscles lose protein and are replaced by fats and connective tissue, making the skeletal muscles unusable. In this paper, the parts of Duchenne’s that will be covered are the method of transmission, statistics about Duchenne’s in the population, the pathophysiology, the body systems effected, signs and symptoms, age of onset, treatment/therapy options, psychological factors, prognosis, prevention techniques, ethical considerations, and how genetic counseling may be utilized for patients. Duchenne’s muscular dystrophy
Duchenne’s muscular …show more content…
Mothers who are carriers of the gene may pass the gene to the offspring. In males, the gene will be expressed, and females would become carries, due to the fact that most females do not show any signs or symptoms of Duchenne’s.
Statistics about Duchenne’s in the United States In the United States, the defective gene dystrophin that effects proteins and is found to cause Duchenne’s muscular dystrophy, is present in 1 out of every 3,600 male infants. Since the disease is passed from parent to offspring, the male offspring of a carrier mother has a 50% chance of receiving the trait, and 50% of the female offspring will become carriers of the disease. …show more content…
One of those dilemmas are whether or not the use of gene therapy should be used or not (Dartmouth 1999). Gene therapy is seen in the science community as a way of treatment or a way to find answers to questions that many people would not know. Others on the other hand, see gene therapy as invasive.
How Genetic Counseling is used Genetic counseling is used in many ways in DMD. Expecting parents with DMD in their families are often encouraged to seek a genetic counselor before delivering the baby, so that there may be tests done to know whether or not the child will have DMD. Once the child is born, if they have Duchenne’s, there are ways that the genetics counselor can be used to assist in treatments, such as the myoblast injections.
Conclusion
What I’ve learned about Duchenne’s muscular dystrophy is that it is a disease of the muscles that ultimately leads to a shortened life of every 1/3,600 males. In addition to the muscles being targeted, I learned that death does not just occur from being confined to a wheelchair and having atrophied muscles, the respiratory system eventually shuts down from the lack of muscle in the heart at diaphragm and that is why death occurs. Learning about genetics and specifically DMD, will impact the way I treat patients, because they were born with that specific disease and most of them were probably singled out as kids for not being able to do what other children could, or were