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Spinal muscular atrophy, what is it and how can it be detected?

Unfortunately it is a genetic disease of hereditary character that has no cure, but its severity varies according to the age at which it occurs and its subsequent evolution, with the prognosis being worse the sooner it appears.

It is interesting to be able to provide special spaces for specific diseases that can affect children more or less, because in this way, with space and time to explain them well, the best knowledge can be learned and more revealed. A lot of knowledge. Recently, we have done this for bronchiolitis or sudden skin rashes. In the next few lines, we will do the same for spinal muscular atrophy. The acronym for spinal muscular atrophy is in English ( SMA), or Spanish (SMA).

This genetic pathology gradually destroys the lower motor neurons, which are responsible for controlling movement in very important areas of the body, such as the arms, legs, chest, face, throat and tongue. These neurons communicate with nerve cells in the brain stem and spinal cord, which control basic voluntary muscle activities, such as talking, walking, breathing, and swallowing. Depending on where the direct communication channel is disrupted, whether it is between the upper motor neuron and the lower motor neuron in the brain, or whether it is between the lower motor neuron and the muscle in the brain, the consequences will be as .

Origin of the disease Spinal muscular atrophy

In the latter case, according to the National Institute of Neurological Diseases and Stroke, a reference agency for cardiovascular and neurological diseases in the United States, “muscles weaken and can begin to shrink and develop uncontrollable seizures. Control tremors as if they had worms in them: this is a symptom shared with other degenerative diseases such as amyotrophic lateral sclerosis (ALS). If there is a “blackout” between neurons

The muscles of the extremities develop stiffness -this is called cramps- the movement becomes slow and laborious, and the tendon reflexes (such as knee and ankle contractions) are activated,” the body explained above, which also points out that this disease is more powerful than the hands. And the feet affect more severely the trunk and the muscles of the arms and thighs. The disease usually results in the loss of the ability to control voluntary movements in the later stages.

As we said at the beginning of the text, SMA is a genetic disease. It is inherited in an autosomal recessive manner, a scientific term meaning that there must be two copies of an abnormal gene for it to develop. This means that in order to develop, a child had to inherit a defective gene from both parents, which may be asymptomatic because they did not inherit the two defective genes that must cope with spinal muscular atrophy from their parents. This defective gene is called SMN1 and, according to health experts, it is responsible for producing the SMN protein, which is essential for the survival of motor neurons. Then, if its presence in the body is insufficient, it triggers the disease with the already explained symptoms, which gradually increase.

Treatments for Spinal Muscular Atrophy

Depending on the type of disease, this is the severity of the disease, which affects shelf life and quality. In type III cases, respiratory infections are common. Although the disease survives for life, if the disease is stable, it can have a normal lifespan in healthy people.

On the other hand, in the first two types of cases, unfortunately, because the disease cannot be cured and life expectancy is low, treatment includes controlling symptoms, avoiding complications, and improving the patient’s quality of life. Possible extension. In type I infants, the mortality rate is high before 2 years due to respiratory failure, and in type II children and adolescents, life expectancy is shortened, although this depends largely on the development of the disease.

As is the case with many other degenerative diseases for which the best treatment has not yet been found to cure patients, scientific research is fundamental and the public budget allocated to it plays a key role, not only donations from the private sector. Hopefully, we will soon be able to talk about advances in the treatment of incurable spinal muscular atrophy and other diseases.