24.11.2020

Spinal muscular atrophy

Back problems are not over trivial fatigue or acquaintances for each of the scoliosis, they are more serious and even tragic. If the majority of such diseases are acquired, there are varieties of diseases that are inherited.

For example, spinal muscular atrophy occurs because of modifications, which are often the key trigger the countdown at the level of 5 chromosomes. To understand how this problem is serious and that it is actually worth considering a bit closer.

What is spinal muscular atrophy

Most often there is muscular atrophy in children and at what stage of their life this issue will have an effect on quality of life and even the ability to survive.

Genetic defeat is quite serious, indeed, under such a simple name hides a problem of the following type:

  • affects neurons the vertebrae, which are the mechanism for transferring data in the area of the spinal cord;
  • motor activity of the neurons was significantly decreased and almost reaches zero value;
  • there is a loss of the anterior horn of the vertebrae, which are responsible for the transmission of signals to the muscles of the legs, the muscles of the neck and head.

The front horn of the spinal cord is the site of accumulation of a huge number of neurons – nerve endings. It was with their help the body sends signals to the brain and causes the body to perform the next action. If no signal, then the reaction is missing and the person loses the ability to move or in best cases simply can not control the algorithm of movements of his own body.

As is

The problem can manifest itself at an early age, immediately after birth, closer to adolescence or even in adulthood. The symptoms will manifest themselves depending on what age the person had to deal with this problem. Spinal muscular atrophy can manifest itself thus:

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  • It should be noted that with the emergence of problems of this nature area of the hands not affected. This is a typical feature of spinal muscular atrophy, and thanks to her presence, people will be able to guess the presence of this problem.loss of motor activity of the striated musculature of the feet;
  • arbitrary and quite often head in different directions or complete lack of reaction of the muscles;
  • difficulty in swallowing food and the occurrence of painful sensations during the process;
  • loss of coordination when the child is crawling or trouble walking;
  • the preservation of pain sensitivity all of the above areas.
What varieties of shares

Muscle atrophy Werding-Hoffmann or Kugelberg-Velander was named as such in honor of the scientists who first opened eyes to this problem world. These people described the phenomenon of spinal muscular atrophy, but no one until today could not find an effective cure for specified diseases.

Doctors have divided the problem into species. There are four types specified hereditary diseases, among which the most severe can be called atrophy type 1. Treatment of spinal muscular atrophy type 1 is not performed, because the doctors described the problem as follows:

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  • natural composition,
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  • efficiency, proven expert,
  • a quick result.
  • manifested immediately after birth of the child;
  • preclude the possibility of normal development of the baby;
  • has very pronounced symptoms.

World statistics says that half of babies with this diagnosis do not survive to 2 years. Unfortunately, there’s nothing the doctors can do about it, because the find cure for this serious disease yet are inconclusive. Over time, the situation may change for the better, but it remains only to count.

Spinal muscular atrophy is of the second type are more encouraging and are as follows:

  • disease manifests itself in age from 7 to 18 months;
  • the child is unable to sit or stand, although it is difficult;
  • there is a chance that the baby will manifest at least some sensitivity.

The older the child, the more likely he that he will be able quite a long time to live with this problem. Of course, the quality of life will be a lot to be desired, but it is not so sad as in the first case.

Spinal muscular atrophy type 3 manifests itself quite often. To describe this kind of problem in the following words: occurs between the ages of 18 months and 35 years, the man has the ability to feel my legs and neck, move slowly, preserved sensitivity and all-natural reflexes can be eaten on their own, to walk slowly, you may experience problems with coordination of movements and position of the head, difficulty while eating.

Atrophy of type 4 makes itself felt after 35 years and quite often not so much affect the quality of human life. If the problem specified flavor forecast can be called positive, because people could live in peace, but when faced with some uncomfortable moments. Spinal muscular atrophy at any age is undesirable, but fully insure themselves against such problems, no one can.

How to treat and be treated, if at all

There is an opinion that modern technology and experienced medical professionals can deal with absolutely any problem. Unfortunately, it does not. Effective drug drug that had the opportunity to deal with this problem is not yet invented. Experienced professionals are trying to find the answer to this puzzle, but all attempts fail.

Despite that modern doctors do not even think to give up and try to correct the situation as follows:

  • the physical therapy for the patient;
  • a course of special massage and exercise;
  • eliminate discomfort with the help of special pharmaceutical drugs.

Such treatment will not be able to give a perfect result, but some time get rid of discomfort. Quite often professionals are trying to use shock-wave therapy, but this only relieves the discomfort and pain. To change something or to alter at a genetic level it is impossible and if this pathology is already in place, she can be felt at any inopportune moment.

If you choose from several ills the minor, it is better if the disease manifests itself in adulthood, but newborn practically no chance.

How to identify the problem and what to do to the patient

Spinal muscular atrophy is quite serious hereditary disease. About his presence, to imagine themselves, will be quite difficult, but this diagnosis should be validated by a qualified doctor.

If the problem manifested immediately after the baby is born, the parents know this is still in the hospital, but an adult with a suspicion on this pathology, should do thus:

  1. to seek the advice of a qualified professional;
  2. pass the necessary tests and screening;
  3. to wait for the results of laboratory and medical research;
  4. consult a doctor about the possibility of application of some therapeutic modalities to at least slightly improve the quality of life.

People need to understand that with this diagnosis he will have to live permanently. It will be good if the patient will not to go anywhere alone, beside him, always someone will be, because at any moment you may need help. Because their own hands people manage can, he will not have mental health problems or mental disorders, it will be able to look after themselves virtually alone. In some cases you may need the help of outsiders.

Spinal muscular atrophy is not an acquired disease, which means for life you can’t bring such harm on their own. A person can earn scoliosis or a hernia, but it is not a pathology.

Additional recommendations

If a person had to deal with congenital disorders of this type, he did not despair. Adult person can live with this pathology for quite some time, but is attentive to yourself and to the body, so that not to aggravate the situation.

If a person is observed in spinal muscular atrophy, he should adopt the following tips:

  • do not try to make any unnecessary movements;
  • do not try to raise their own or somewhere to convey the severity;
  • no need to constantly sit in one place, but to walk is not too long or quickly;
  • to avoid difficulty swallowing, food must be well chopped, not too hot or cold;
  • worth trying to improve their own condition through physiotherapy sessions.

The person who suffers from this type needs to feel full, despite the presence of minor issues. It will be good, if near the patient will constantly relatives and friends, especially if we are talking about the child of preschool or of school age. Such a problem would not be a smooth phenomenon and effective drugs to combat it had not yet been invented.

If a congenital disorder makes itself known to the baby immediately after birth, then the chances of life had not so much. In adulthood, carry the problem, which was laid at the genetic level is not so simple, but it is possible. Worth trying with all the forces at least a little to correct the situation and improve the quality of life. Surgery will not help to restore the sensitivity of neurons, but despite this, the affected person will be able to live a normal life.

Congenital disorders worries people every year more and more often, which gives an incentive to scientists who are developing medicines. Maybe with time, doctors will be able to find the solution to this problem and every person with this pathology, in whatever age he may be, will be able to live a full life. While it is only speculation, but for man everything is possible if it is going to work very hard. Spinal muscular atrophy is a difficult disease, but to live a normal life with such a defect in adulthood is completely real.

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