Spinal Muscular Atrophy Research Paper

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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 …show more content…

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 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 …show more content…

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

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