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Infant's genetic muscle disorder improved by treating pregnant mother | Case study demonstrates a simple new treatment, with a child showing no signs at all two and a half years after birth.
Spinal muscular atrophy (SMA) is a debilitating genetic condition that’s usually fatal by a few years of age. But an intriguing case study might demonstrate a simple new treatment, with a child showing no signs at all two and a half years after birth.
SMA is caused by mutations in a gene called SMN1, which results in a deficiency of a protein crucial for the survival of motor neurons in the spinal cord. The parents were both known carriers of SMN1 gene mutations that raised the risk of SMA, and sadly had previously had a child born with the disease who died at 16 months of age. The scientists found that the child had higher levels of the SMN protein in their bloodstream, compared to babies normally born with the condition.
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