sma disease

sma - Is there a way to definitively save SMA patients? ================================================================== The discussion of SMA disease has become a hot topic these days, do SMA patients have no consequences other than death from this disease?... How far is it possible to treat and survive these patients, basically how and in whom does SMA occur and what is the cause of this disease, for this reason I wanted to provide you with the results of the latest scientific research on SMA patients and how these patients can be helped... What is sma disease? Muscular atrophy of the spine is a genetic disease that affects the part of the nervous system that is responsible for the voluntary control of muscles.. Many of the nerve cells that control muscles are located in the spinal cord, which is called the spinal cord.. As the word atrophy... Atrophy, which is a medical term for shrinking and wasting, which generally occurs when muscles are inactive. Sma is classified as a motor neuron disease that results from the loss of nerve cells and motor neurons in the spinal cord. The most common type of sma The most common type of SMA disease is chromosome sma 5 or SMA related to SMN, which will have many differences according to the age of onset, symptoms and speed of disease progression, to understand these differences, chromosome 5 is classified into four categories. The age of onset of symptoms is almost directly proportional to the degree of impairment of motor function, the age of onset of the disease has the greatest effect on motor function, children like Halma (the famous Instagram child) who are diagnosed with this disease at birth usually have the lowest level of motor function and are classified in category one. Onset of the disease in children (after the neonatal period) places them in class 2 and 3, and adults and adolescents are classified as class 4, this classification and levels are increasingly affected by motor function. Motor neuron survival is related to the protein produced by chromosome 5 SMN, this protein is called motor neuron survival and it seems to be necessary for the normal function of motor neurons... A genetic mutation in chromosome 5 called SMN1 can cause a reduction and defect in this protein, chromosome SMA2 as a homologous gene can partially compensate for this defect. Other rare types of SMA are caused by genetic mutations in other types of genes than SMN. ### What are the symptoms of SMA? SMA symptoms can appear from a mild spectrum to a severe spectrum, the primary symptoms related to chromosome 5 in SMA disease affect the voluntary motor muscles and are caused by weakness in these muscles, and in fact, the muscles that are close to the central part of the body (proximal muscles) should have the most damage in this field.. Shoulder. Complications that occur in the breathing and swallowing muscles lead to dysfunction of these muscles, and if the back muscles are weak, it causes curvature of the spine. There are many factors related to chromosome 5 that make a difference in the age of onset and level of motor function of this disease, all of these depend on the amount and which protein in the SMN chromosome as well as the amount of the SMN2 gene in each individual. Verbal, mental and emotional functions are quite normal in SMA chromosome 5, however, some types of SMA disease are not related to the number of SMN chromosomes, these forms vary greatly in how the disease affects the muscles and while most patients with SMA chromosome 5 affect the proximal muscles (closer to the center of the body...muscles away from the center of the body) at least early in the disease. ### Progress in relation to SMA patients In the case of SMA related to chromosome 5, the later the symptoms start and the later the symptoms appear and the SMA protein is present, the milder the disease, whereas before SMA babies did not live more than two years, now this type of SMA (SMN) is considered curable and permanent, and with this condition, there are patients who do not notice muscle and muscle weakness before two years before death. Not reported. ### Research on SMA patients according to Muscular Dystrophy Association of America Research has been done on the strategy of increasing the production of SMN protein in the body in a form that does not have chromosomes, and another therapeutic approach is to help improve motor neurons. On September 23, 2016, the FDA approved a drug called Spiranza that could potentially reduce, reverse, or stop SMA symptoms. This drug can save the lives of children with SMA.. Although this drug is rare, but with effort, the death of children with SMA and the disability of Halma and other Halma can be prevented. #### Life expectancy in SMA disease Fortunately, there is much hope for the longevity of SMA patients, especially in relation to the spectrum of SMA type 1 patients, which is discussed in the case of infants, because they can live longer due to their response to medication and standard care, although SMA type 2 patients face a reduced life expectancy, but with proper care, they can live a useful and long life. Regarding SMA type three, they are generally not subject to reduced life expectancy, but this group needs psychological care and support so that they don't think about suicide and ending their lives, and it should be sure that the necessary arrangements are made in this case. Was this article helpful?... Rate it`` **Dr. Majid Kihani, neurologist in Tehran**