Neurológia pre prax 1/2022

The role of biopsy in the diagnosis of neuromuscular disorders in the molecular biological era

Nowadays, in times of new possibilities of molecular genetic testing, muscle biopsy is no longer the diagnostic method of choice in most myopathies. In hereditary myopathies, a biopsy is indicated only if the findings from molecular biological analysis is non-conclusive or does not correlate with the clinical phenotype of the disease. On the contrary, muscle biopsy is indicated in all cases of autoimmune processes – myositis, immune-mediated necrotizing myopathies, or vasculitis.

Keywords: muscle biopsy, myopathy, nerve biopsy, neuropathy