Molecular diagnostics of Charcot-Marie-Tooth disease and related peripheral neuropathies

摘要

DNA diagnostics plays an important role in the characterization and management of patients manifesting inherited peripheal neuropathies. We describe the clinical integration of molecular diagnostics with medical history, physical examination, and electrophysiological studies. Molecular testing can help establish a secure diagnosis, enable genetic counseling regarding recurrence risk, potentially provide prognostic information, and in the near future may be important for the choice of therapies.