Spinal muscular atrophy (AME) is a rare genetic disease that affects 1 in 10,000 children in Brazil; expert emphasizes the importance of early diagnosis
OR medicine Zolgensma🇧🇷 considered the most expensive in the world And rated approx BRL 6 million, will be incorporated into Unified Health System (SUS)🇧🇷 The product is used to treat spinal muscular atrophy (SMA)a rare genetic disorder that impairs muscle movements, affecting breathing, feeding and locomotion.
In Brazil, it is estimated that 1 in 10,000 people are born with AME, according to study published in the National Library of Medicine🇧🇷 For now, there are two drugs already available in the SUS, the Spinraz (or Nusinersena) and the Resdiplam, both in continuous use. The former is given through injections in the lower back every four months. The second is an oral solution and must be taken every day.
On the other hand, Hannah, now 4 months old, was diagnosed with SMA type 2 shortly after she was born through expanded heel prick testing and started Spinraza treatment even before symptoms showed. “She recently had an exam that shows if there was any loss of neurons. The exam showed that she had no loss, thank God. She has no hangover,” says Hannah’s mother, Camila Silva Carvalho .
The incorporation of the AME test into the SUS is part of the fifth phase of the implementation of the expanded heel prick test in the public system, expected in two years. However, the Chamber of Deputies has discussed its anticipation.
Camila says it was the enlarged heel prick test that detected SMA in her daughter at the health center near her home in Porto Alegre. The Expanded Foot Test Act in SUS, enacted in 2021, increased the number of diseases monitored by the test offered by the public system from 6 to 53. The rule went into effect in May this year, but provides for the staggered extension of this test.
Spinal muscular atrophy (SMA)
AME is a genetic and neuromuscular disease caused by the body’s inability to produce a protein essential for the survival of motor neurons. As a result, these neurons die and the muscles of the patient’s body are affected, preventing him from performing vital and voluntary body gestures, such as breathing, swallowing and moving.
The disease is transmitted by an autosomal recessive inheritance system. Fathers and mothers who have the gene, but don’t have the disease overt, can pass this gene on to their children. These children, yes, express AME. Therefore, it is only possible to know the probability that the child will be born with the disease by performing genetic tests on the father and mother.
There are five types of AMEs, numbered 0 to 4, from most to least severe. The most common cases are type 1 AME, when the signs usually appear before six months of life. Children with this type of disorder do not develop the ability to sit up by themselves and lose most movement within the first year of life.
Treatment
Drugs already available on the SUS provide the protein that prevents the motor neurons of people with AME from dying. With this, the disease is stabilized.
Zolgensma, on the other hand, is a gene therapy that transfers the genes capable of producing this protein to people who have AME, making them able to produce the material necessary to prevent the death of more transmitter neurons.
According to Ciro Matsui, in general, the two types of treatment have the same effect and neither completely cures the disease. “Once a neuron dies, it cannot be restored. Therefore, there is no regression of the patient’s condition, only stabilisation,” he explains.
Recipients of the new drug SUS
The Ministry of Health has not yet issued the technical note approving the drug, which must be published in Official Journal of the Union again this week. However, Health Minister Marcelo Queiroga said Zolgensma will only be available to infants up to 6 months who have type 1 AME and remain without the aid of invasive ventilation methods for more than 16 hours a day.
According to Ciro Matsui, Conitec’s decision regarding the reference target is correct and in line with the clinical tests of the drug, which were carried out on children of this age group and with this type of disease, which is the most widespread and involves severe cases. .
“The sooner the child is treated, the higher the chance that he or she won’t develop serious sequelae,” she says. “I would only add type 2 of the disease, because this group can also have severe manifestations and would benefit from the drug,” she adds.
The physician also emphasizes that in line with the new treatment available, it is important that the AME test is incorporated as soon as possible into the expanded heel prick test available from SUS. Thus, the diagnosis can be made more quickly and the child will be able to take the medicine even before the onset of neural damage.
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Source: Terra
Ben Stock is a lifestyle journalist and author at Gossipify. He writes about topics such as health, wellness, travel, food and home decor. He provides practical advice and inspiration to improve well-being, keeps readers up to date with latest lifestyle news and trends, known for his engaging writing style, in-depth analysis and unique perspectives.
