Key result
There remains a marked diagnostic delay in Spinal Muscular Atrophy, with a mean time from symptom onset to diagnosis of 1.94 months in type I, 5.28 months in type II, and 16.8 months in type III.
Why the study?
The advent of new therapies has increased the need for early diagnosis in spinal muscular atrophy, prompting investigation into the age at diagnosis and diagnostic delay across pediatric-onset types.
Population
480 patients with confirmed type I, II, or III SMA followed at 5 Italian centers
Comparison
Timing and diagnostic journey across SMA types I, II, and III
Design
Multicenter cohort study
Authors
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Emphasizes prompt evaluation for infantile SMA; leaves open impact of diagnostic timing on outcomes.
Observational (n=480)
Yes
There remains a marked diagnostic delay in Spinal Muscular Atrophy, particularly in type III, highlighting the need for earlier recognition to maximize the benefit of new therapies.
Pera et al. (2020) conducted an observational in Spinal Muscular Atrophy (n=480). Diagnostic pathway was evaluated on Age at diagnosis and interval between clinical onset and diagnosis. There remains a marked diagnostic delay in Spinal Muscular Atrophy, with a mean time from symptom onset to diagnosis of 1.94 months in type I, 5.28 months in type II, and 16.8 months in type III.
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