Nt1310 Unit 1 Assignment

My choice for a genetic disorder is Spinal Muscular Atrophy also known as SMA. SMA is an inherited or genetic disorder that affects spinal motor neurons. Without these properly functioning neurons, patients have increased muscle weakness. In some severe cases patients will lose the ability to breath or swallow on their own. According to the National Human Genome Research Center, 1 in 6,000 to 1 in 10,000 people are affected by SMA. There are three forms of SMA affecting children before the age of one. Type 0, which is the most severe. Type 0 begins before birth. Type I is the next type, this type has a lot of the same symptoms of Type 0 and symptoms become present around birth to within the first few months. The last type is Type III, this is a milder form and symptoms appear around early childhood. There are several symptoms for SMA, the most prevalent are, not being able to breathe or swallow, sit or stand without help, or walk. With progressing SMA, a patient’s muscles deteriorate and eventually all muscle mass and strength is gone. …show more content…
Fight SMA also explained how we all have a vital gene, and when that gene is deleted or mutated it stops the creation of a protein needed for our muscle growth and strength. This causes SMA. I also learned that both parents have to carry the defective gene for the person to be affected by SMA. Many drug treatment studies have been performed, but clinical trials have been unsuccessful. The main treatment is aimed at providing the patients with the best quality of life possible. Stabilizing a patient’s independence and minimizing disability. The use of wheelchairs, braces, spinal orthoses, and splints help with this