Spinal Muscular Atrophy
Spinal Muscular Atrophy (also known as SMA), is genetic disorder which negatively affects people’s physical strength due to its effect on the motor nerve cells in the spinal cord that effects one out of forty people. The type of SMA this essay is focused on is called 5q-SMA. The essay will encompass different what Spinal Muscular Atrophy is, how it affects someone who has it, how it is obtained, as well as different types of Spinal Muscular Atrophy under the 5q-SMA category.
Spinal Muscular atrophy as a result of a SMA1 mutation on chromosome 5. It is named 5q-SMA for an extremely simple reason, and this is because it is caused by a mutation in the SMN1 (which is a survival motor neuron gene) that is located on chromosome 5. The effect of Spinal Muscular Atrophy on Chromosome 5, results in difficulties concerning simple taks ranging from the ability to walk, breath, and even eat. This occurs due to a motor neuron disease which comes from the genetic disorder. With Spinal Muscular Atrophy motor neurons in the spinal cord do not have enough SMA protein due to SMA protein deficiency which is a result of Spinal Muscular Atrophy, causing the motor neurons to not work normally and possibly die. Due to this, muscle weakness and atrophy (shrinkage) are effect of having Spinal Muscular Atrophy. Spinal Muscular Atrophy also comes with a neuromuscular disease attached with it as well. This neuromuscular disease affects the peripheral nervous system, and the motor neuron body cell which was previously explained is encompassed in this alongside the neuromuscular motor-neurons as well as the muscles themselves. As for the central nervous system, this includes the brain as well as the spinal cord and the peripheral nervous system is everything outside the brain and spinal cord. The peripheral nervous system is responsible for sending information to and from the central nervous system to regulate muscle activity. This is negatively affected by SMA.
Spinal Muscular Atrophy is also an autosomal recessive gene, meaning it is an inherited gene parents give to a child. In order for one to get Spinal Muscular Atrophy, both parents must carry the recessive mutated gene and pass it on to the child, these parents are called carriers. Parents who are carry these gene and are also typically not affected by it. It is possible to have a abnormal mutated SMA gene so long as they only have one copy of the normal gene. The one normal SMN1 gene has the possibility to overcompensates for the abnormal one.
Spinal Muscular Atrophy (5q-SMA) can come in different types as well. There are more
than four types, although the main types I will discuss are type one, type two, type three, and type four. Type one is also called Werdnig-Hoffmann disease. Type one is the most restricting as well as common form of Spinal Muscular Atrophy that is usually diagnose during while a person is an infant. People with SMA1 typically have a low life expectancy and suffer from things such as muscle weakness as well as breathing, swallowing, as well as coughing difficulties. Type two is diagnosed after one is from six months to two years old by unsuccessfulness to meet motor milestones. People with this type of SMA cannot walk, seat their self in a seating position, but are able to sit up on their own. The third type of Spinal Muscular Atrophy is also called Kugelberg-Welander Disease/Juvenile SMA and is typically diagnosed from 18 months of age to the age of three but can be diagnosed all the way up to when the person is a teenager. With this type of Spinal Muscular Atrophy, the ability to walk is lost over time and begin to have more and more mobility issues as they get older. The last type of Spinal Muscular Atrophy which I will discuss is Type four, an extremely rare form of Spinal Muscular Atrophy that is mild and diagnosed in a when one is an adult.