SMA

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Spinal Muscular Atrophy commonly known as SMA is one of the most common of rare diseases. A motor neuron disease, SMA affects the basic needs of walking, talking, and overall control of muscles. With no known cure for this disease, over time the slow waste (atrophy) of muscles causes many complications usually ending in death. There are three types of SMA, ascending from level of severity and onset of age. Newborns have the least likely chance of making it. In most cases they pass before the age of two because it has affected all necessary movement. When the onset occurs between six and eighteen months the child has a higher chance of making it. It is common for them to be able to sit up on their own at this stage and have the chance to learn how to walk with help. The latter of stages can become apparent in the years of three upwards through adolescence. This stage has the greatest chance because depending on the start of symptoms the person has learned to walk and do most living necessities without help. At this stage the visual problems are them having trouble standing up from a seat, or trembling of there extremities. Luckily as time progresses so does our technology, a lot is known of SMA from the molecular level, to inheritance pattern, and prognosis. On a molecular level SMA is known to cause a mutation of the SMN1 gene on chromosome 5q13. An autosomal recessive disorder, SMA affects the anterior cells of the spinal cord and brain stem nuclei four and five. Most commonly the mutation is the deletion of exon 7 in the SMN1 gene. A healthy SMN1 gene is full in length and protein functionality. With this mutation not enough is produced. Another close gene is SMN2 that also produces the same protein. A person can have many of t... ... middle of paper ... ...s not prove anything it shows hopes for a possible cure or at least the diminishing of negative symptoms. Currently tests that may give you an early understanding run from anywhere between 50 dollars and ten thousand! With that a wide variety of technology comes with it. Researchers can both count chromosomes and measure protein ability all the way up to fully probing ones DNA finding specific genetic sequences that can decode almost all possibilities for diseases. Other controversies exist as to whether genetic screening in general is a viable option. Should all parents have to see a gene counselor before having the right to engage in pregnancy? Now in a perfect world this would be best, but it takes away the true meaning of having a child in my opinion. When you commit to having a child it is for all good and bad. You need to love and care for them no matter what.
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