Key result
The natural course of infantile SMARD1 showed a rapid clinical decline until age 2 followed by a plateau, with clinical scores at 3 months positively correlating with outcomes at 1 and 4 years.
Population
11 children with infantile spinal muscular atrophy with respiratory distress type 1 due to mutations in the…
Design
Cohort
Follow-up
mean 7.8 (SD 3.2) years
Authors
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Early scores may inform SMARD1 prognostic counseling; leaves open whether interventions modify the post-2-year plateau.
Cohort (n=11)
In children with SMARD1, despite initial rapid decline, residual capabilities stabilize after age 2, and early clinical scores predict long-term outcomes.
Eckart et al. (2011) conducted a cohort in infantile spinal muscular atrophy with respiratory distress type 1 (SMARD1) (n=11). Natural disease course was evaluated on clinical score and residual capabilities. The natural course of infantile SMARD1 showed a rapid clinical decline until age 2 followed by a plateau, with clinical scores at 3 months positively correlating with outcomes at 1 and 4 years.
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