Spinal Muscular Atrophy
Spinal Muscular Atrophy, also known as SMA, is the number one genetic disease killer of children under two years old. About one in every 6,000 babies are born with SMA and one in 40 people carry the gene that causes SMA. Spinal Muscular Atrophy is a genetic disease that affects the part of the nervous system that controls the muscle movement. Most of the nerve cells that control the muscles are located in the spinal cords. SMA is when there is a loss of nerve cells and protein in the spinal cord which is called motor neutrons. Motor neutron protein is necessary for muscles to function properly. This diseases weakens the muscles that affects an individual’s physical movement. Only few individuals with SMA are able to walk. This disease
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The most severe form is type one and the least is type four. However all these type of diseases are a result of mutations on chromosome 5, that affects the amount of the protein called survival of motor neurons that can be produced. Type 1 SMA is called Werdnig- Hoffmann Disease and it is when children under the age of two are diagnosed with SMA and symptoms include breathing, sucking, and swallowing difficulties. Type 2 SMA begins usually after infancy and also individuals who are able to sit without support after being placed in a sitting position can also be referred to type 2. In type 2, the proximal muscles are usually affected the most. It is also common to have scoliosis a spinal curvature due to the weakness if the muscles that normally support the spine. Individuals with scoliosis will have trouble with mobility and breathing. The type 3 called Kugelberg-Welander disease, which is a mild SMA. People with this type can be able to walk until their 30’s or 40’s. People with type 3 have a longer life expectancy than type 1 and 2. Type 4 is usually when SMA begins in adulthood. Overall, the major symptoms include problems in mobility and breathing
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.
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.
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).
Muscular dystrophy is an inherited disease that was discovered in 1861, by Guillaume B.A. Duchenne. Muscular dystrophy is a group of heredity disorders characterized by rapidly-worsening muscle weakness. The trait for muscular dystrophy may be transmitted as an autosomal dominant which means a disorder that has two copies of an abnormal gene that must be present in order for the disease or trait to develop. In this case, if some original carrier of the disease had children, the children would have a fifty-fifty chance of inheriting the disease. It is also carried as an autosomal recessive trait, in which case the offspring of the original carrier would have a very small chance of
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").
Muscular dystrophy is a degenerating disease, in which the skeletal muscles degenerate, lose their strength, and cause increasing disability and deformity. Muscles attached to the bones through tendons are responsible for movement in the human body, however, in muscular dystrophy the muscles become progressively weak. As the muscle fibers
Muscular dystrophy can negtively impact muscles in the body by disrupting strength, structure, and signaling. MD can also have adverse effects on the nervous, repiratory, and immune systems by leading to impairments such as learning disabilities, heart complications, and
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.
Spinal muscular atrophy (SMA) is a genetic neuromuscular disorder involving degeneration of anterior horn cells in the spinal cord due to a deficiency of SMN protein produced by the SMN1 gene. While this is an extensive topic, the following paper attempts to provide an overview of relevant aspects and treatment strategies of interest.
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
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.
Muscular dystrophy (MD) is a genetic disorder caused by incorrect or missing genetic information that leads to the gradual weakening of the muscle cells. Various causes lead to weak and deteriorating muscles depending on the type of muscular dystrophy the patient was affected by. However, there are many causes for muscular dystrophy due to the fact that there are thirty forms of muscular dystrophy, which are categorized under several categories. All are ultimately caused by autosomal recessive, autosomal dominant, sex-linked, and random mutations in very rare cases.