What Is A Spinal Muscular Atrophy?

March 29 01:02 2019 Print This Article

It is defined as a disorder in which there is a loss of the motor neurons. It is also known as the SMA. It leads to the increase in wasting of muscles. It may lead to the weakness and infant death which may lead from the mild to moderate weakness. It requires a lot of medical care which involve disciples from the different fields. It includes the pediatric pulmonology, neurology, ortho pedic surgey, critical care, and physical medicine and rehabilitation. It also involves the physical therapy, occupational therapy, respiratory therapy along with the clinical nutrition. It is quite helpful for the parents and other family members along with a genetic counseling. The term refers to Kugelberg Welander Syndrome refers to the juvenile spinal muscular atrophy.

What is the diagnosis of spinal muscular atrophy?

It can also be made with the help of spinal muscular nuclear gene test. It helps to know whether there is availability of SMN 1 gene or not. It looks for the sequences which are unique in nature. It can be differentiated from the spinal muscular nuclear gene. They are present in the axons 7 and 8. In few cases where the spinal muscular nuclear gene test is not feasible or there is no other abnormality. One can go for an electro myo graphy which is referred as the EMG. There is also need of muscle biopsy in future cases.

What are the signs and symptoms of spinal muscular atrophy?

It includes the number of features. It varies from the primary feature of this disorder which ranges from the weakness of muscle to its atrophy. It occurs as a result of de nervation and may lead to the loss of contract to signal. It is moved from the spinal cord. Normally, the motor neurons are involved which lead to the transmission. It occurs from the spinal cord to muscle. It occurs mainly through the axon via neuron of motor. In this disorder the axon of motor neuron along with the axon is lost. The features of this disorder increases with the age and so is its severity. This disorder mainly occurs by the mutation in the spinal muscular nerve gene. It is not constant and it varies from the infancy to adult hood. It can vary from fatal to trivial. It involves the different individuals. They range from the one extreme to other end of extreme.

The features of this disorder are mainly the secondary complications of weakness of muscles. It can be treated with the help of a prospective therapy. The most severe form of this disorder is the infantile form. It mainly includes the weakness of muscles, irregular tone of muscles, weakness of cry and cough, difficulty in the swallowing, collection of secretions in the lungs or throat, sweaty hands with a clenched fist, vibration of the tongue, legs in the frog leg position, difficulties in the eating, arms are stronger as compared to the legs, tilting of head on one side, torso shaped bell which occurs due to the use of breathing muscles which are present near the tummy area, hypo tonia, are flexia along with the multiple congenital contractures which are linked with the absence of anterior horn cells, increase chances of the respiratory tract infections, weakness in the bladder, less weight, along with the lifting of head. It is not easy to be reached.

What are the different types of spinal muscular atrophy?

It includes the mutation caused by spinal muscular nuclear gene. It affects a large number of infants. Its wide variety ranges. The other types of this disorder are caused by the mutations observed in the other genes. In all forms of this disorder the denervation leads to the common weakness. It is mainly the weakness of muscles. It occurs as there is a loss of connection from the spinal cord to the point where it contracts. This disorder affects the motor nerves and lead to the atrophy of muscles later on. In contrast there are heritable disorders which may lead to the weakness as a result of motor de nervation. It occurs in relation with the loss of sensory function. It occurs due to sensory de nervation. It is known as the charcot marie tooth which is also known as the hereditary motor and sensory neuropathy which is also known as a HMSN.

What is the treatment of spinal muscular atrophy?

It includes the use of assistive technology such as ventilators, power wheel chairs along with a access to the computers. The individuals with this disorder are able to live a full life with the technologies mentioned above. They have a positive effect in the treatment of this disorder. They help the individuals to participate in the community. The most important part is played by the ventilation. The severity of weakness is in direct link with the course of this disorder. The infants with the severe form of this disorder have most common respiratory infections. It occurs as the result of weakness of muscles which help in the process of breathing. There are children which have a mild form of this disorder which live longer as compared to the other children. They need a lot of medical support mainly at the people which are at the receiving end of the disease.

One can better understand this concept on the basis of molecular biology. There are many experimental testing which are done to verify it. It includes the replacement of gene, replacement of stem cell of motor neuron. There are other promising theories which are required to increase the expression of spinal muscular nuclear gene. It increases the percentage of mRNA which helps in the transcription of spinal muscular nuclear gene. It is spliced to full length form. There are other therapies which are related to the drug which might increase the remaining function of spinal muscular nuclear gene. It can also make its loss. In the pre clinical research a significant progress has been made so that effective treatment can be provided. There are many drugs which have been identified in the experiments done in laboratory which shows a good promise. One must evaluate the drug which helps in the process of spinal muscular nuclear gene function.

A new medicine has been tested in a clinical research which has showed that the patients must be monitored carefully. One must look for a drug effects which can be positive or negative. There are few drugs which are under the clinical investigation of this disorder and include the butyrates, valproic acid, hydroxyl urea, riluzole and quinazolines. There are other components which have increase the expression of spinal muscular nuclear gene. It have also increased the full percentage of transcript of spinal muscular nuclear gene. Most of the death occurs due to the complications seen in the treatment. The prevention and management of this disorder depends on the secondary complications. It is important that even in the long run one must go for maintenance of the oral functions. It helps in the specific treatment of SMN levels.

What is an adult spinal muscular atrophy?

It is defined as a disorder in which there is a death during child hood. Most of the people with this disorder are able to survive till adult hood as well as in the old age. The actual life span depends on the severity of this disorder. There are three different types of spinal muscular atrophy in each individual. They give a rough diagnostic guide about it. The overall survival depends on the slow rate of degeneration. There are few individuals with type 1 spinal muscular atrophy which survive longer. The spinal muscular atrophy does not affect the intellectual ability. The treatment of this disorder involves the use of and includes the assistive technology such as ventilators, power wheel chairs along with a access to the computers. The individuals with this disorder are able to live a full life with the technologies mentioned above. One can also go for a soft ware known as the switch access or speech recognition. It allows the people with limited ability to use the computer for multi purposes like reading, writing, playing games as well as the control of environment. The spinal muscular atrophy does not alter the reproductive as well as other functions. It includes the social functions also. They have an active sexual life and give birth to the offspring’s.

What is a baby spinal muscular atrophy?

It is defined as a disorder in which there is a cumulative effect of the condition. The patient has life which he cannot tolerate. There is a baby MB which is not able to survive up till nine months. It occurs in the year 2006 in the month of December. In the March 2006 and on date 15th the high court of justice of England and Wales said that the baby MB was kept alive. It was done in contrast to the 14 other medical professionals. One of the doctor was S and the judge gave the verdict in favor of medical evidence.

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