Impact of a national population-based carrier-screening program on spinal muscular atrophy births


Spinal muscular atrophy (SMA) is an autosomal recessive disease characterized by progressive muscle atrophy and weakness. It is the most common genetic neurodegenerative disease, leading to infant death due to respiratory insufficiency. The estimated incidence is 1 in 11,000 births, and the carrier frequency is 1 in 40 to 1 in 67 people [1]. The time of onset ranges from the intrauterine period to adolescence or young adulthood.


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