Drivers of Diagnostic Delay in Mitochondrial Disease: Missed Recognition of Canonical Features.

ABSTRACT:

Background

Diagnostic delay is common in mitochondrial disease, and its drivers remain unclear despite advances in molecular diagnostics.

Methods

We retrospectively analyzed 58 individuals with molecularly confirmed mitochondrial disease at the Mount Sinai Mitochondrial Disease Clinic, diagnosed after 2016. Diagnostic delay was partitioned into intervals from symptom onset to clinical suspicion, and from suspicion to molecular diagnosis. Demographic, phenotypic, and genetic data were abstracted from health records, and Human Phenotype Ontology terms were compared before and after diagnosis using ClinPhen.

Results

Most delays occurred between symptom onset and clinical suspicion (mean 8.17 years) rather than after suspicion (mean 0.63 years), yielding a mean total dela

SUBMITTER: Tinker RJ 

PROVIDER: S-EPMC12633123 | biostudies-literature | 2025 Oct

REPOSITORIES: biostudies-literature