Pre-symptomatic spinal muscular atrophy: a proposed nosology
Richard S. Finkel, Michael Benatar
Abstract
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 pre-symptomatic disease and also accommodates emerging prognostic biomarkers.
Topics & Concepts
Spinal muscular atrophyNosologyAtrophyMedicineAmbiguityDiseaseDegeneration (medical)PathologyPhysical medicine and rehabilitationNeurosciencePsychologyComputer scienceProgramming languageNeurogenetic and Muscular Disorders ResearchCongenital Anomalies and Fetal SurgeryRNA modifications and cancer