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Essay On Spinal Muscular Atrophy

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Spinal muscular atrophy, (Also known as SMA) is a genetic disease that affects voluntary muscle movement. Spinal Muscular Atrophy is caused by the mutation of the 5th chromosome. SMA usually affects the proximal muscles, such as shoulders, thighs, hips and upper back. This worsens over time. There are four types of Spinal Muscular Atrophy: Type one is the most common and severe and effects the baby while it is still inside the womb. This can result in the baby having a spall throat, because the spine bends inward. The spine could also crush the baby’s lung(s). Type two is a little less severe, because the baby isn’t effected until it is born. Type two usually affects babies ranging from 2 months all the way to adolescents. Type three is mild; but still worsens over time. This would usually allow the person …show more content…

In 1995, the cause for spinal muscular atrophy was found. A gene termed ‘the survival motor neuron’ (Also known as SMN), was discovered. Each individual has 2 SMN genes, known as SMN1 and SMN2. Over 95% of patients with spinal muscular atrophy have a disruption in the SMN1 gene on chromosome 5, caused by mutation, deletion, or rearrangement.” For one to have SMA, both parents have to be carriers. Most people have two copies of their SMN1 gene, a carrier is someone with one working SMN1 gene and a faulty gene. For someone’s child to have SMA, both parents need to be carriers. “There is a 25% chance that their child will be unaffected, a 50% chance that their child will be a carrier and a 25% chance that their child will have SMA” One in fifty people are carriers. SMA can cause severe respiratory problems. The intercostal muscles, the muscles we use to breathe, are very weak. There can be an increased chance to get respiratory diseases such as influenza, pneumonia, and the common

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