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

JMIR Medical Informatics 2026 Open access

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Authors: Gabriel Holly, Bryce Bean, Haidy Beshay, Gabrielle Edwards, Nicholas S. Streicher
DOI: 10.2196/103543
Cited by: 1
References: 22

Abstract

UNSTRUCTURED: 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.

Fields of Study & Subjects

Neurogenetic and Muscular Disorders Research Muscle activation and electromyography studies Cerebral Palsy and Movement Disorders

Publication details

Journal / source
JMIR Medical Informatics
Publisher
JMIR Publications Inc.
Volume
14
Pages
e103543–e103543
Publication date
17 July 2026
Language
EN