作者: Alexander M Rossor , Matthew R B Evans , Mary M Reilly
DOI: 10.1136/PRACTNEUROL-2015-001095
关键词:
摘要: Charcot-Marie-Tooth disease is the commonest inherited neuromuscular disease. It characterised by degeneration of peripheral sensory and motor nerves can be classified into axonal demyelinating forms. This review provides a diagnostic approach to patients with suspected neuropathy an algorithm for genetic testing that includes recent advances in genetics such as next-generation sequencing. We also discuss important aspects long-term management neuropathy.