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Spinal Muscular Atrophy Research Papers

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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 …show more content…

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

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