2023-09-02 04:00:59
Spinal Muscular Atrophy is the leading cause of death in children under two years of age due to a genetic condition.
Although there is no cure, there are treatments to increase the hope and quality of life of patients.
To date, the expanded screening applied to newborns in Mexico does not include the test to detect this disease.
Rare diseases face a serious problem due to little research and treatment that exists. Within this group of pathologies, the Spinal Muscular Atrophy because it is classified as the first cause of death in children under two years of age due to a genetic condition.
First, the World Health Organization (WHO) defines rare diseases such as those that occur in less than five people per 10,000 inhabitants. To date it is estimated that there are between six thousand and eight thousand different ones, although together they affect just over 350 million people on the planet.
What does it consist of?
For her part, the Spinal Muscular Atrophy It is a congenital neuromuscular pathology that damages the motor neurons of the spinal cord. Its main characteristic is that it causes progressive muscle weakness due to the deficiency of the SMN1 gene.
It is a highly disabling disease that affects all muscles, including respiratory muscles. Worldwide, it affects one in 10,000 people, while one in 40 are carriers.
Against this background, the Dr. Miriam Jimenezwho is a pediatric neurologist and medical director of Biogen Mexico, affirmed that an opportune diagnosis is decisive to increase the hope and quality of life of patients.
A genetic disease without a cure but with treatments
In Mexico, the reported incidence is between 0.5 and one case per 25,000 births, according to the article “Spinal Muscular Atrophy: Clinical and Genetic Study in Mexico”. It also mentions that there are few reports on the frequency of this rare disease in the country’s hospitals. The largest was carried out in 2015 where the frequency of carriers was investigated, limiting itself to 1/38 people“.
Dr. Jiménez pointed out that “there is no cure for this disease, but there are treatments already available to change its course. In this way, patients who were not going to walk can move. Hence the importance of an early diagnosis that allows patients to immediately access a treatment that provides a better life expectancy.
The specialist also mentioned that in Mexico the expanded screening does not include the test to detect the Spinal Muscular Atrophy. Given this, the also member of the Mexican Society of Pediatric Neurology He called on the parents and first contact doctors to be attentive to the development of the little ones. Some warning signs are muscle weakness, low muscle tone or flaccidity, decreased strength to hold the head, to sit, to turn on its own axis, to hold a toy such as a rattle, weak crying, repetitive pneumonia, among others.
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New rare diseases recognized in Mexico: 3 added to the official catalog
Spinal Muscular Atrophy, the deadliest genetic disease in children
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