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
Summary
Diagnostic codes for spinal muscular atrophy (SMA) are often inaccurate in adults. Molecular confirmation revealed that less than one-third of flagged patients actually had SMA, highlighting significant miscoding issues.
Area of Science:
- Neurology
- Medical Diagnostics
- Health Informatics
Background:
- Spinal muscular atrophy (SMA) is a rare genetic neuromuscular disorder.
- Accurate diagnosis is crucial for appropriate patient management and research.
- Diagnostic coding systems aim to capture patient conditions but can be prone to errors.
Purpose of the Study:
- To evaluate the accuracy of diagnostic codes for spinal muscular atrophy (SMA) in an adult patient population.
- To determine the positive predictive value (PPV) of SMA-associated diagnostic codes.
- To identify the extent and nature of miscoding for SMA.
Main Methods:
- Retrospective analysis of electronic health records within a US health system.
- Identification of adult patients with SMA-associated diagnostic codes.
- Review of molecular confirmation data for SMA in the identified patient cohort.
Main Results:
- Fewer than one in three adults with SMA diagnostic codes had molecularly confirmed SMA.
- The positive predictive value of SMA diagnostic codes was determined to be 27%.
- The majority of patients with SMA codes were miscoded, often falling into clinically distinct categories.
Conclusions:
- Current diagnostic coding for spinal muscular atrophy in adults is highly inaccurate.
- Significant over-identification of SMA cases occurs due to coding errors.
- Improved diagnostic strategies and code validation are necessary for accurate SMA patient identification.