Shortcast: Drivers of Diagnostic Delay in Mito Disease: Missed Recognition of Canonical Features
About this episode
Dr Rory J. Tinker discusses the factors contributing to diagnostic delays in mitochondrial disease and the importance of early recognition.
Dr Rory J. Tinker discusses diagnostic delay in mitochondrial disease, showing that most delays occur before clinical suspicion, despite canonical features being documented years earlier. The study highlights opportunities to shorten the diagnostic odyssey through earlier recognition and informatics approaches. Drivers of Diagnostic Delay in Mitochondrial Disease: Missed Recognition of Canonical Features Rory J. Tinker, et al https://doi.org/10.1002/jmd2.70068
People in this episode
Guest: Dr Rory J. Tinker
Topics covered
- diagnostic delay
- mitochondrial disease
- clinical suspicion
- canonical features
- informatics approaches
Keywords
- diagnostic delay
- mitochondrial disease
- clinical suspicion
- canonical features
- informatics
Mentioned in this episode
Organizations: Journal of Inherited Metabolic Disease
Books & works: Drivers of Diagnostic Delay in Mitochondrial Disease: Missed Recognition of Canonical Features
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