Diagnostic Code Ambiguity and Misclassification of Adults With Spinal Muscular Atrophy: A Single-Center Chart Review.

Authors

Gabriel Holly, Bryce Bean, Haidy Beshay, Gabrielle Edwards, Nicholas Streicher

Published in

JMIR medical informatics. Jul 17, 2026. Epub Jul 17, 2026.

Abstract

In a single US health system, fewer than one in three adults flagged by SMA-associated diagnostic codes had molecularly confirmed spinal muscular atrophy (positive predictive value 27%), with the majority miscoded across clinically distinct categories.

PMID:
42467520
Bibliographic data and abstract were imported from PubMed on 18 Jul 2026.

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