Topic > Spinal Muscular Atrophy Research Paper - 689

Spinal Muscular Atrophy, also known as “SMA,” is a genetic and motor neuron disease that affects the area of ​​the nervous system that controls voluntary muscle movements such as walking, crawling and swallowing. When someone acquires this condition, their muscles begin to shrink because the muscles do not receive signals from the nerve cells in the spine that control function. Spinal muscular atrophy is a rare but serious condition. Spinal muscular atrophy affects approximately 8 in 100,000 live births and causes the death of more children than any other genetic disease. About one in forty people have this gene but may not have SMA, so they are a genetic carrier. But for a child to have SMA, both parents must carry the mutated gene and pass it on to the child. Therefore this causes the child to have double copies of the abnormal gene. About 1 in 40 men and 1 in 80 women carry the gene. Survival motor neurons are a protein produced by the survival motor neuron 1 gene. The SMN protein is found throughout the body, especially if it contains high levels in the spine. cord. This protein is important for the maintenance of specialized nerve cells called motor neurons found in the spinal cord and brainstem. When a person has abnormal or missing SMN1, it causes serious problems because they do not receive the correct communication from these cells, resulting in nerve cell shrinkage and, over time, death. SMA is divided into four types. Determining the type you have is based on physical accomplishment because each person is different. SMA is not a progressive disease, although over time people with this condition lose the ability to coordinate due to... half of paper... it is possible to check whether this condition is hereditary. A physical exam is a good way to check for any type of muscle weakness or spinal curvature. Treatment for spinal muscular atrophy is not currently available to correct this condition. But a person can take other steps to try to comfort the situation they are in, but there is no stopping it. Physical therapy is important because it can help work the muscles to prevent them from contracting. Breathing machines are important because many problems fall into breathing when weakness of these muscles occurs. Bottom line, there are a lot of conditions to be aware of that people don't really think about. It is important to take precautions and pay attention to the symptoms and conditions that the body shows us. And educate yourself on the different diseases out there to protect our families and ourselves.