Muscle biopsy in genomic era: real-world diagnostic and clinical implications over 10 years.
Non-specific myopathic muscle biopsies more likely to yield a later diagnosis than normal biopsies
Muscle biopsy in genomic era: real-world diagnostic and clinical implications over 10 years.
The diagnostic role of muscle biopsy has evolved with the increasing availability of next-generation sequencing (next-generation sequencing).
To evaluate the diagnostic yield of muscle biopsy in a 10 year consecutive cohort, assessing concordance across clinical suspicion, histopathological findings, and final clinical diagnosis, and exploring demographic predictors of biopsy outcome.
A retrospective cohort study of all consecutive muscle biopsies performed at a single tertiary neuromuscular center (2015-2025).
non-specific myopathic biopsies were more likely than normal biopsies to yield a later diagnosis
Among 401 consecutive biopsies (56.9% male; median age 49 years), overall concordance between clinical suspicion and biopsy conclusion was 42.3%.
Concordance with final clinical diagnosis was substantially higher, reaching 94.0% for idiopathic inflammatory myopathies (idiopathic inflammatory myopathies) among evaluable cases.
Sex distribution differed significantly across biopsy categories (p < 0.001), with idiopathic inflammatory myopathies showing marked female predominance (69.1%).
Muscle biopsy retains high diagnostic value in contemporary neuromuscular practice when applied to clinically selected patients.
Beyond establishing specific diagnoses, biopsy findings carry prognostic significance and provide demographic signatures that reinforce their clinical validity.