In perhaps the first in the country is a newborn, which carried the Mutation of the SMN1 gene for the backbone muscle atrophy (SMA) through prenatal genetic screening, administered by presymptomatic treatment for SHA in Sat Hospital, minimizing the child’s potential for future neuron damage.
Infant, which is almost three weeks old, is administered by presympomatic treatment using risdiplam, one of the rare drugs of modifying diseases that are currently available for SMA, so the child gets the advantage of early treatment. This is a rare and very fundamental step forward for the state in the management of rare diseases.
SMA refers to a group of hereditary diseases that affect motor neurons, which are specialized nerve cells in the brain and spinal cord, which control body movement and skeletal muscle activity. This disease is currently not treatable, although several treatments have been developed for SMA, which maintain motor neurons and improve muscle function for prolonging life.
In SMA, treatment at the beginning of life tends to provide more benefits. However, early diagnosis is full of many challenges. Most SMA cases occur when the affected gene is handed over from the individual’s parents. In this case, the mother is a SMA patient and through prelatal diagnostic tests it was found that the fetus was carrying a Muta mutation associated with the SMA. Although it was possible to stop pregnancy, the woman decided to have a child.
Used in the west
“Normally, we do not get to diagnose SMA soon before the symptoms appear. Here, because of prenatal screening, we got a chance for early intervention and thought we would try presympomatic treatment, a protocol that is now used in the west with very positive results.”
Therapeutic time for SMA treatment is narrow and timely treatment before the symptoms are set, improves motor function and results. According to medical literature, it minimizes motor neuron damage and maximizes the potential for engine development minimizes motor damage and maximizes the potential for engine development.
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“SMA does not have treatment and presymptomatic treatment does not offer any guarantee that the child will not later develop disease. However, timing of treatment is essential and we hope that the child will gain the advantage of early treatment and that neuron damage can be minimized or prevented,” Shanker.
Minister of Health Veen George said it was a rare opportunity for the state to potentially save at least one child from the debilitating disease. The state government is already giving Risdiplam, which is disproportionately expensive, for approximately 100 patients with free SMA, under its Karela (Kerala against rare diseases), state initiatives to devise a comprehensive strategy for prevention and management of rare diseases.
Published – June 19, 2025 20:11 is
