Case Study: Spinal Muscular Atrophy

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

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

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.

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.

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

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

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

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

For decades, muscular dystrophy has been associated with Jerry's kids. That is, Jerry Lewis surrounded by children during the annual Muscular Dystrophy Association's Labor Day Telethon. From 1966 to 2010, Jerry Lewis hosted this annual telethon to benefit those with muscular dystrophy. Muscular dystrophy (MD) represents a group of nine inherited muscle disorders. The telethon went on without Lewis from 2010 to 2014, ultimately ending in 2015.

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.

Duchenne Muscular Dystrophy was first discovered in the 1860s by a French neurologist which went by the name of Guillaume Benjamin Amand Duchenne de Boulogne. Guillaume was the first to consider multiple types of muscular atrophy and paralysis which were caused by nerve disorders. He discovered that muscular atrophy was caused by a degeneration of the dorsal columns of the spinal cord. During the 1860s, Duchenne de Boulogne assessed and described the progressive muscle weakness within 13 boys. Using an instrument that Guillaume, himself had developed, he was able to remove portions of tissue found deep within the body which assisted with the discovery of biopsy practices.

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.

Muscular dystrophy is a disease in which muscles become weak over time due to muscular atrophy. Duchenne and Becker

Duchenne Muscular Dystrophy, referred to as DMD, is the most severe form of all muscular dysrophies. It is rapidly progressive and occurs primary in boys. DMD is caused by a recessive mutation in the X chromosome. It can be inherited by either parent however, it can also be present with no family members having the mutation. DMD is caused by a lack of dystrophin. Dystrophin is a protein found in muscles that enables the muscle tissues to repair themselves.

What is Muscular Dystrophy, or MD for short. Muscular Dystrophy is a hereditary disease that effects the muscles which controls movement weaken overtime, and in some cases will affect the heart and other organs. Symptoms can show up in those as young as infants and can stay in those in the middle ages or older. There are nine major forms of MD including: Myotonic, Duchenne, Becker, Limb-girdle, Facioscapulohumeral, Congenital, Oculopharyngeal, Distal, Emery-Dreifuss. The form and severity vary by the age that MD occurs. Some types of MD will affect mostly males, while some people with MD will enjoy a slow progression with mild symptoms, but on the otherhand, others will experience swift and severe weakening, dying in their late teens and early 20’s. More than 50,000 Americans are affected by various types of MD.