A medical miracle is being described, doctors have succeeded in treating a deadly motor neuron disease in a child which was still in the womb. Posted in details The New England Journal of MedicineWhich for the first time marks that a situation called spinal muscular atrophy (SMA) is settled before birth.
SMA is a genetic disorder that targets motor neurons, limiting movement and weakens muscles over time. It is a very rare disease, which occurs in just one of every 10,000 living births. In this case the child had SMA Type 1, which was the most common form of disorder after undergoing genetic testing.
In particular, parents were already away from a child due to SMA Type 1. The tests showed that both chromosomes in the fetus also had mutations in the SMN1 genes.
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Process
The team intervened in the 32 -womb period of the wealth by giving mother Risdipalam – a drug approved by the US Food and Drug Administration (FDA) for the treatment of SMA in infants. Till now, the drug was administered only after birth, but doctors were still allowed to give it to the mother with the baby in the womb.
The mother took medication daily for six weeks, while the child was given herself orally medicine, about a week after birth. Doctors found that the baby had a lower nerve damage than other infants born with high levels of SMN protein and other infants born with SMA type 1. No signs of unusual muscle development have been shown since his birth in months.
Although he may have to move the residiplam to adulthood for the rest of his life, while doctors monitor him closely for any change in muscle development. As a previous update, about three years after the child was born, no signs of rare genetic disorders showed.
(Tagstotransite) spinal muscular atrophy (T) spinal muscular atrophis