Case Study: Spinal Muscular Atrophy

1. The meaning of Duchenne muscular dystrophy is a severe form of muscular dystrophy caused by a genetic defect that can be characterized by a disturbed growth of cardiac and skeletal muscles. It usually affects boys. In 1861, a French neurologist, Guillaume B. Duchenne, was the first person to give a detailed description of this syndrome.

Imagine how it would be like if you can’t run and have to be in a wheelchair at a young age. You would face lot’s of difficulties like having to get up and walking. A rare disease called Duchenne Muscular Dystrophy can do this to you. Duchenne is a disease with rapidly worsening muscle weakness. It is not very well know. Boys are more likely to have it them girls because boys don’t inherit a flawed dystrophin gene. This gene protects you from Duchenne.

Ben has Duchenne Muscular Dystrophy (DMD). DMD is a degenerative disease of the muscles. When someone has this disease their muscles do not produce enough dystrophin to stay together. This causes the muscles to deteriorate over time. With proper care, the rate of muscle degradation can be slowed down. Duchenne muscular dystrophy is a genetic disorder characterized by progressive muscle degeneration and weakness. Muscle weakness can start as early as age three. It first affects the hips, pelvic area, thighs, and shoulders. This disease is still fatal and will be until further studies and research are done to find ways to cure this disease.

6. The physician orders alendronate (Fosamax) 70mg/wk. what instructions should you give M.S. regarding alendronate?

Spinal muscular atrophy may present itself in various forms, affecting every stage of life. Consequently, this stretches from the affected fetus exhibiting joint contractures, to a young child who cannot independently sit (type I) and to a young

ALS is usually described as a neurological disorder that weakens your muscles. In other words, your nerve cells begin to die and you lose voluntary muscle control. It affects every person differently, but it most commonly appears in your upper core

When I was a sophomore, my health class had a debate about a news article that had been published a few months prior on the 12News website. The story was about a girl named Jerika who was born with Spinal Muscular Atrophy Type Two, and after thirteen years of life, decided to go on Hospice and be taken off her ventilator. When I had first started to read the article, I thought about how this could be any different from suicide with the help of doctors, and I questioned how anyone could think it was morally or ethically right. I thought about how she was only thirteen and she could not possibly be able to make this kind of decision by herself. I felt even more upset when I read about how her mother had just accepted Jerika’s decision so easily

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

CRISPR Cas-9 is a system that changes genes and shows a further promise for treatment for Duchenne Muscular Dystrophy (DMD). Doing this will hopefully avoid ethical dilemmas. DMD effects nearly 1 in 5,600-7,700 people between the ages of 5 and 24 for males in the U. S. CRISPR stands for “Clustered Regularly Interspaced Short Palindromic Repeats”. These are DNA segments found in microorganisms that repeat itself in open spaces. CRISPR attacks any virus that comes into your body and cuts the strand of virus on the DNA out. Researchers have tried to cure DMD in mice by getting therapy through the back of the eye, one of the ways CRISPR therapy works, which seems to work best.

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.

Facioscapulohumeral (FSHD) muscular dystrophy- begins among a variety of ages, most commonly the teenage years, but can also begin in adolescence or adulthood. Begins muscle deterioration usually in the face or the shoulders. A sure sign someone is suffering from the FSHD form of muscular dystrophy is that raising their arms will result in their shoulder blades bulging out, similar to

According to the MediLexicon Medical Dictionary, muscular dystrophy is defined as a general term for a number of hereditary, progressive degenerative disorders affecting skeletal muscles, and often other organ systems (Staff). Basically what that means is that muscular dystrophy is a genetic disorder that is passed down that affects the skeletal muscles and other organs by slowly breaking them down. Since it is genetic, it is not contagious and you cannot catch it from someone who has it. MD weakens muscles over time, so children, teens, and adults who have the disease can gradually lose the ability to do the things most people take for granted, like walking or sitting up. Someone with MD might start having muscle problems as a baby or

For this mock business, I’m partnering with Daniel Mills to create a child and youth sports center. The center is going to be called “Defending Champs Youth Center”. It will be a non-profit business. The center will have youth and young child development programs and activities for low income families. We will provide low cast care, education, and sporting events and activities for the youth and young children in the Belton, Texas area. The reason why we want to create this center is because there isn’t a cheap center for kids to go to with the things that we will offer. The center will be much cheaper than the Belton center that is already there in Belton. Also, our center will provide more services and products than that center. Our organizations mission statement is, “Use Christian principles to help younger kids through different sports and demonstrate a sincere concern for others, and for

Giorgio Vasari’s Lives of the most eminent Painters Sculptors and Architects had biographies on many well known artists of the Renaissance. Three of the artist he comments on are Leonardo da Vinci, Raphael Da Urbino, and Michelangelo Buonarroti. While he admired all 3 artists he had an overwhelming favorite, Leonardo da Vinci.

The history of graphic design, is filled with many different respected individuals. These individuals helped shape and evolve graphic design. Paul Rand is one such graphic designer, who helped change the art of graphic design. Paul Rand was born in 1914 in Brooklyn, New York. Rand attended the Pratt Institute in Manhattan. Rand was a very well know advertising artist by his early 20’s. Many of his best works in advertising came after World War II. Rand would turn to European advertisements, as an inspiration for his own pieces. Paul Rand was known for his contributions to page design, his advertisement pieces, and his creation of various corporate logos.