Is there any algorithm that is already present in infancy? What does it look like?
Scientists have tried to develop a treatment algorithm for SMA-positive infants identified through newborn screening based upon SMN2 copy number.
Spinal muscular atrophy [SMA] is an autosomal recessive disease characterized by the degeneration of alpha motor neurons in the spinal cord, leading to muscular atrophy. SMA is caused by deletions or mutations of the survival motor neuron 1 gene [SMN1]. In humans, a nearly identical copy gene, SMN2, is present. Because SMN2 has been shown to decrease disease severity in a dose-dependent manner, the SMN2 copy number is predictive of disease severity.
Treatment guidelines were developed and recommendations were that all infants with two or three copies of SMN2 should receive immediate treatment [n=13]. For those infants in whom immediate treatment could not be recommended, guidelines have developed that outline the timing and appropriate screens and tests to be used to determine the timing of treatment.
Is there any algorithm that is already present in infancy? What does it look like?
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