Key result
The childhood incidence of SMN1-related SMA in Western Sweden is approximately 1 in 11,800 live births, and disease severity correlates with the number of SMN2 copies.
Population
Children with spinal muscular atrophy (SMA) and their parents from Western Sweden
Design
Cohort
Authors
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Supports regional SMA planning in Western Sweden; reinforces SMN2-severity correlation in observational data.
Observational
This population-based study establishes the childhood incidence of SMA in Western Sweden and confirms the correlation between SMN2 copy number and disease severity.
Arkblad et al. (2009) conducted an observational in Spinal muscular atrophy (SMA). SMN2 copy number and other SMA region genes was evaluated on Incidence of SMN1-related SMA and genotype-phenotype correlations. The childhood incidence of SMN1-related SMA in Western Sweden is approximately 1 in 11,800 live births, and disease severity correlates with the number of SMN2 copies.
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