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New Delhi, Feb 22: In a groundbreaking medical achievement, doctors have successfully treated a life-threatening motor neuron disease in a baby while still in the womb. The case, published in The New England Journal of Medicine, marks the first-ever prenatal treatment for Spinal Muscular Atrophy (SMA)—a rare genetic disorder that weakens muscles and limits movement.
The unborn child was diagnosed with SMA type 1, the most common and severe form of the disease, after genetic testing confirmed mutations in the SMN1 gene. The parents, who had previously lost a child to the same disorder, sought early intervention.
At 32 weeks of pregnancy, doctors administered risdiplam, an FDA-approved SMA drug, to the mother—a pioneering intervention in fetal medicine. The mother continued the medication for six weeks, and the baby received an oral dose one week after birth.
Since birth, the child has demonstrated normal muscle development and higher levels of SMN protein compared to typical SMA type 1 cases. Nearly three years later, she remains symptom-free, though doctors emphasize that lifelong monitoring and medication may still be necessary.
This medical milestone offers new hope for early intervention in genetic disorders, potentially transforming the future of prenatal treatment.
Disclaimer: While this case represents a significant medical breakthrough, further research and clinical trials are needed to assess the long-term effectiveness and safety of prenatal treatments for genetic disorders. Patients and families should consult medical professionals for guidance on individual cases.
