Pre-symptomatic spinal muscular atrophy: a proposed nosology COMMENT

Finkel and Benatar highlight the ambiguity of the term 'pre-symptomatic' when characterizing infants at genetic risk for spinal muscular atrophy. They propose a conceptual framework that recognizes clinically silent and prodromal stages of presymptomatic disease and also accommodates emerging prognostic biomarkers.

Automated summary

Finkel and Benatar discuss the ambiguity of the term 'pre-symptomatic' in characterizing infants at genetic risk for spinal muscular atrophy, and propose a new conceptual framework.