Related Experiment Video
Updated: Aug 5, 2026
08:16
Utility of Dissociated Intrinsic Hand Muscle Atrophy in the Diagnosis of Amyotrophic Lateral Sclerosis
Published on: March 4, 2014
Diagnostic Code Ambiguity and Misclassification of Adults With Spinal Muscular Atrophy: Single-Center Chart Review
Gabriel Holly1, Bryce Bean2, Haidy Beshay1
1Department of Neurology, School of Medicine, Georgetown University, 3800 Reservoir Rd., Washington, DC, United States, 1 202-877-1212.
JMIR Medical Informatics
|July 28, 2026
Abstract
Unlabelled:
In a single US health system, fewer than one in three adults flagged by spinal muscular atrophy-associated diagnostic codes had molecularly confirmed spinal muscular atrophy (positive predictive value 27%), with the majority miscoded across clinically distinct categories.