Longitudinal natural history of type I spinal muscular atrophy: a critical review
View Full Paper
Ask AI
Bookmark
Share
Why the study?
New therapies in spinal muscular atrophy have highlighted the need for natural history data for comparison, but natural history studies using structured assessments in type I are very limited.
Population
Infants with type I spinal muscular atrophy first assessed before the age of 7 months with the Children's…
Design
Review
Authors
Discussion
Loading...
Member takes
Implication
Adds longitudinal CHOP INTEND benchmarks for early type I SMA; leaves open prospective validation in therapy trials.
Structured PICO
P
Population
Infants with type I spinal muscular atrophy (SMA) first assessed before the age of 7 months with the Children's Hospital of Philadelphia Infant Test of Neuromuscular Disorders (CHOP INTEND)
O
Outcome
CHOP INTEND scores over time
This review of natural history data in untreated type I SMA infants confirms a consistent decline in motor function, providing a crucial baseline for comparison with new disease-modifying therapies.
Cite This Study
Mercuri et al. (2020) studied this question.
View Full Paper
Ask AI
Bookmark
Share