Related Experiment Video
Updated: Apr 15, 2026
A Simple Composite Phenotype Scoring System for Evaluating Mouse Models of Cerebellar Ataxia
Published on: May 21, 2010
Spinal muscular atrophy functional composite score: A functional measure in spinal muscular atrophy
Jacqueline Montes1,2, Allan M Glanzman3, Elena S Mazzone4
1Department of Neurology, Columbia University Medical Center, 180 Ft. Washington Avenue, Fifth Floor, New York, New York, 10032, USA.
Introduction:
With clinical trials underway, our objective was to construct a composite score of global function that could discriminate among people with spinal muscular atrophy (SMA).
Methods:
Data were collected from 126 participants with SMA types 2 and 3. Scores from the Hammersmith Functional Motor Scale-Expanded and Upper Limb Module were expressed as a percentage of the maximum score and 6-minute walk test as percent of predicted normal distance. A principal component analysis was performed on the correlation matrix for the 3 percentage scores.
Results:
The first principal component yielded a composite score with approximately equal weighting of the 3 components and accounted for 82% of the total variability. The SMA functional composite score, an unweighted average of the 3 individual percentage scores, correlated almost perfectly with the first principal component.
Conclusions:
This combination of measures broadens the spectrum of ability that can be quantified in type 2 and 3 SMA patients.
