Duchenne Muscular Dystrophy Essay

At present, I am working with two of my patients, Jack and Dianne. Jack and Dianne have had no children and are wondering if they should. They are unsure because both of their families have had a history with Duchenne muscular dystrophy and they are worried that they will pass this into their children. Because of this, they have come to me, a genetic counsellor, to ask my advice. To start, I asked each of them to tell me about their family’s heath as far back as each could remember. This information

progenitor cells will be tested through treatment of the DMD (Duchenne muscular dystrophy) phenotype. Skin

Skeletal muscles play a huge role in the way our bodies function because without muscles, our bones would not properly be held together. Most of the body’s muscle tissue is skeletal muscle. It interacts with the skeleton to move body parts. It’s long, thin cells are called fibers and they have more than one nucleus. Their structure gives them a striped look. The muscles are considered voluntary, which means that the contractions can be controlled. A skeletal muscle contains bundles of muscle

Inheritance of Muscular Dystrophy Muscular Dystrophy is a condition that affects the growth of muscles in the body. MD effects for the most part manly males (1 in every 7,250 males) (CDC.gov). There are two main forms of MD, one is call Duchenne MD and the other Becker MD with a lifespan average of 30 years old. Duchenne MD is the more severe form because no dystrophin is formed, when this happens the symptoms are shown in early childhood usually by age 5. Becker MD is not as severe it is caused

This requires the administration of a heel-prick test in the nursery home or within 7 days of birth. The blood sample will be screened for all disorders (phenylketonuria, congenital hypothyroidism, sickle cell disease and cystic fibrosis, Duchenne muscular dystrophy, and Krabbe). Adopting this option would provide an opportunity for earlier detection and treatment of the disease. However, there is a chance for false-positive results as well as the added costs. There is also the ethical dilemma of patient

Genetic Disorders of Nonsense Point Mutations Gene expression is regulated by the cell, and genetic mutations can cause permanent changes in the cell’s genetic material. Specifically, one type of mutation that occurs in a cell’s DNA is a nonsense point mutation. In this type of mutation, a chemical change in only one nitrogenous base results in a premature stop codon. This causes the translation to end early. In the given strand of DNA, the nitrogenous base Adenine was affected. Thymine was substituted

distal from the body. Some examples would be hands and feet. Muscular dystrophies, which is a myopathy disease, tends to develop at an early age.

word muscular dystrophy? Some people may have no idea as others may have firsthand experience dealing with this disease or having extensive knowledge on the subject. The purpose of this paper is to inform any healthcare professional, anyone taking care of someone with muscular dystrophy, or anyone interesting on being informed about Muscular dystrophy. This paper will provide an overview of muscular dystrophy as well as the different types and the problems associated with muscular dystrophy. Also

Muscular Dystrophy The topic I chose is muscular dystrophy as a muscular disease, when we break the word down into word parts, muscul/o means muscle, -ar means pertaining to, dys- means abnormal and, -trophy means development. Muscular dystrophy is Inherited disease causing a progressive muscle degeneration,weakness, and atrophy. There are many different kinds of muscular dystrophy. They all cause muscle weakness and muscle loss. In muscular dystrophy, abnormal genes interferes with the production

condition, the chance of passing on the change (non-working) copy of the gene to a child is different for males and females” (National Human Genome Research Institute, 2013). • What is SMA? What gene is mutated? According to Muscular Dystrophy Association (MDA), Spinal Muscular Atrophy (SMA)is define as the loss of nerve cells in the spinal cord called motor neurons. SMN1 genes on chromosome 5 cause the defect in that form in SMA