Spinal Muscular Atrophy Research Papers

begins in young adulthood and destroys muscular control. Most people will live with MS for

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.

The results in Figure 2. show that increasing the stimulus strength (V) from 0 to o.40V will result in an increase of Active Muscle force generated by the gastrocnemius muscle in the Buffo Marinus, confirming the hypothesis. The force generated plateaus when the stimulus is beyond o.40V.

Boys begin to have difficulty sitting up and standing, weakness that progresses to muscles in the trunk and shoulder, and later affecting the heart muscle. By the age of twenty years individuals affected with Duchenne dystrophy die.

Spinal Muscular Atrophy is classify as an interneuron abnormality and loss of the anterior horn cells in the spinal column. SMA is categorized into three subtypes with the classification embedded on the motor milestone achieved. Spinal type I (Werdnig-Hoffman disease) child is to weak that they never learn to sit, type II child learn to sit but never learn to walk without assistive device, and type III (Kugelberg-Welander disease) child can walk independently (Tecklin, 2015).

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.

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.

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 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.

Myotonic Muscular Dystrophy, abbreviated MMD, is a disease that affects the muscles and organs of a body. To break Myotonic Muscular Dystrophy down, the word myotonic is the adjective for myotonia, which is an inability to relax muscles at will. Muscular dystrophy means the gradual muscle degeneration, which weakens and shrinks muscle tissue. Knowing the breakdown of MMD, this disease summed up means a person is restricted to relax their muscles at their own will whenever they would like ("Overview Myotonic Muscular Dystrophy"). MMD is also known as "Steinert Disease", which was named after a German doctor who first described the disorder in 1909 ("Facts About Myotonic Muscular Dystrophy").

Spinal muscle atrophy, also known as SMA, is a genetic disease that takes the physical strength of people. It affects the motor nerve cells in the spinal cord, leaving the people who are affected unable to walk, eat, and sometimes even breath on their own (Izenberg, 2016). Most of the nerve cells that control muscles are located in the spinal cord, this is why it is spinal. It is muscular because it affects the muscles. Atrophy is the medical term for getting smaller and that is what happens when they are not used (The Muscular Dystrophy Association, 2016). When an individual has SMA they are not using their muscles as much or at all. That is how Spinal Muscle Atrophy got its name.

The most obvious clinical sign of SMA is generalized, symmetric weakness that affects proximal more than distal muscles and upper more than lower extremities. Upper cranial nerves are spared in SMA, but bulbar muscle weakness can cause a variety of symptoms such as a weak cry, secretion pooling, aspiration, difficulty with feeding and dysphagia. The diffuse weakness affects many systems including respiratory

Type I SMA which is also called Werdnig-Hoffmann Disease or Infantile Onset, is detected before six months of age and is the most common and most severe form of SMA. Children with this type are usually very developmentally delayed and have problems swallowing, breathing, and holding their heads up. “Swallowing and feeding will become difficult for children with this type of SMA and they will eventually lose the ability to swallow safely without aspirating (choking or inhaling secretions and food particles into the lungs)(Battista 5).” The life expectancy for infants with Type I is less than two

Symptoms for this type start when children are 2-17 years old. In this stage children may learn to walk but fall a lot and have trouble walking up and down stairs, and still need help with walking. Then some still are not able to walk at all. They may have more strength in their arms than they do in the legs. Some might need wheelchair assistance in childhood, whereas others might continue to walk and live productive adult lives with minor muscular weakness (Adele D'Amico, 2011) (W. David Arnold, 2014). Some of the signs and symptoms in Type III are, scoliosis again just like in Type II in about half of patients, muscle aching and joint overuse, swallowing, cough, and breathing problems at night may occur but are much less common than in type 2 SMA, fine shaking of the fingers and hands and they are very open to respiratory tract infections and complications (Spinal Muscular Atrophy Type 2, 2014). Balance can also be a problem, causing excessive falls. In type III, respiratory problems are not a big issue, and life expectancy is pretty much