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Spinal Muscular Atrophy Carrier Screening Program: Awareness and Attitude of Healthcare Professionals in Turkey

2024-08-12

Abstract excerpt

<title>Abstract</title> <p>Spinal Muscular Atrophy (SMA) is an autosomal recessive disease caused by mutations in the SMN1 gene, leading to progressive muscle weakness. The global incidence of SMA is approximately 1–3 per 10,000 live births, and the carrier frequency of SMN1 gene mutations is estimated to be about 1 in 50 individuals. In response to increasing carrier rates, especially due to consanguineous marri...

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Literature Corpus work: 8e5fd3ee-abcd-538e-b85c-31974c4aba80
DOI: 10.21203/rs.3.rs-4716412/v1

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