Abstract
Spinal muscular atrophy is a genetic disease that affects a part of the nervous system that controls voluntary muscle movement. Spinal muscular atrophy involves the loss of nerve cells called motor neurons in the spinal cord, which may also be known as motor neuron disease. The motor neurons receive “signals” from the brain to the spinal cord, and then they in turn send signals to our muscles. When these signals do not transmit properly, this is what causes spinal muscular atrophy. It is the number one genetic cause for newborn deaths. There are four types of spinal muscular atrophy, based on age the patient is, and the highest physical milestone achieved by the patient. Type 1 also known as Werdnig Hoffman disease, Type 2 also known
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The only exception to this is type 4, it is an autosomal dominant pattern. Type 1, 2, and 3 are all associated with children, leaving type 4 has the only type adults have. There is currently no cure for spinal muscular atrophy. The only treatment involves prevention and management of the disease. Researchers do believe that gene replacement may be a possible cure, but that will take many more years of research before they can determine if this will work.
SPINAL MUSCULAR ATROHY
Spinal Muscular Atrophy (SMA) is defined as a genetic disease affecting the part of the nervous system that controls voluntary muscles. Atrophy means wasting away, hence exactly what the disease is doing. SMA is characterized by loss of motor neurons in the ventral horn of the spinal cord, leading to weakness and muscle atrophy (Monir Shababi, 2013). The motor nerves receive impulses that come from the brain to the spinal cord, and then transmit the impulses back to the muscles, so when the signals do not work, this is what causes SMA. The loss of these motor neurons leads to your muscles “wasting away.” These muscles are necessary in order for us to
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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
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
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).
Duchenne muscular Dystrophy (DMD) is the most common out of nine types of muscular dystrophy. This genetic disorder causes progressive muscular weakness, and deterioration due to the lack of a protein called Dystrophin. This protein keeps the muscles in tack, so when it's missing, the muscles slowly break down. (MDA, 2015)
This disease affects the nerve cells by enabling them to send electric impulses to the muscles which ultimately makes the muscle wither away and stop working. The nerves targeted are actually
Even though the annual telethon is over, muscular dystrophy—all nine forms—still exists. MD presents with a combination of muscle weakness and muscle wasting.
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.
In each form of muscular dystrophy is caused by a genetic mutation particular to that type of the disease. Many of these actions are inherited but, some occur spontaneously
Spinal cord injuries are characterized by two distinct injury phases. The primary injury phase is represented by all the tissue directly damaged at the time of injury. The damage seen in this phase is primarily shearing of cells, destruction of local vasculature, and severe disruption of spinal cord function. The secondary injury phase is characterized by inflammation of the injury site, immune-mediated tissue destruction, and edema formation at the lesion site. The nature of spinal cord injuries makes the damage done by the primary injury irreversible. The majority of therapeutic research is done with the intention of lessening the damage done during the secondary injury phase. One major complication faced by researchers trying to control the secondary injury phase is the localized destruction of vasculature. Without a constant supply of oxygen and nutrients, many of the cells in the spinal cord will begin to die rapidly, oftentimes releasing biological signals that encourage other cells to die as well. The uncontrolled movement of fluid into the lesion site causes the tissue to swell, further complicating the processes of rebuilding vasculature. The movement of immune
The spinal motor neurons undergo an aging-related gradual loss due to the interaction of multiple factors; the neurons undergo a programmed cell death along with a decrease in signaling by growth factors and protein uptake. This process leads to the denervation of muscle fibers. The surviving motor axons or motor end plates can send some collaterals to innervate the denervated muscle fibers which explains the formation of enlarged motors end
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.
Some effects of this disease includes axial muscle weakness, crooked spine as well as respiratory insufficiency
The topic I am researching today is called muscular dystrophy. They’re many forms of muscular dystrophy. For example like there is Duchenne, Becker, Myotonic, Congenial, Limb-girdle, facioscapulohumeral, distal, oculopharyngeal, and emery-dreifuss. The main common thing all those muscular dystrophy have in common are that all of them cause weakness to the bones.
Amyotrophic Lateral Sclerosis (ALS) is a neurodegenerative autoimmune disease. This means that the neurons ( nerve cells of the brain and spinal cord), particularly the ones that control voluntary muscles (motor neurons), degenerate and die. Naturally, motor neurons in the brain send signals to the motor neurons in the spinal cord, which in turn, sends signals to the muscles. However, the degeneration and death of these neurons (upper and lower motor neurons) doesn’t allow the body to transmit signals to permit the movement of muscles. This eventually causes the weakening of the muscles, and the brain’s loss of controlling voluntary muscle movement. By this, people lose their ability to speak, walk, and breathe.
Muscular Dystrophy (MD) is a group of genetic diseases in which the voluntary muscles are affected. MD causes weakness and degeneration of muscles progressively overtime. It is most common in young males; but in rare cases it can occur in females. MD is caused by mutations on the X-chromosome gene that prevents the body from producing an essential muscle protein called dystrophy, in which without it muscles weaken (Leung & Wagner, 2013). There are 9 major types of MD, which include Becker, Emery-Dreifuss, Myotonic, Facioscapulohumeral, Congenital, Oculopharyngeal, Distal, Limb-girdle, and the most common Duchenne Muscular Dystrophy (DMD) (CDC, 2016). DMD is caused by the mutation of x-linked recessive inheritance, in which this is
1. In terms of progressive weakness and degeneration of muscles one group of disorders is being connected from it and that disorder is called Muscular Dystrophy. It is said to be caused by mutations on the X chromosome and due to not being able to produce a protein called Dystrophin that plays a vital role in building and repairing muscles that cannot function properly. The said protein aids various elements within muscle cells together and bonds them all to the outer membrane or the sarcolemma. Without the presence of dystrophin, disruptions transpire in the sarcolemma results to weakening of muscles and may cause damage to the muscle cells.