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A practical approach to the genetic neuropathies
  1. Alexander M Rossor,
  2. Matthew R B Evans,
  3. Mary M Reilly
  1. MRC Centre for Neuromuscular Diseases, UCL Institute of Neurology and the National Hospital for Neurology and Neurosurgery, London, UK
  1. Correspondence to Professor Mary M Reilly, MRC Centre for Neuromuscular Diseases, UCL Institute of Neurology and the National Hospital for Neurology and Neurosurgery, Queen Square, London WC1N 3BG, UK; m.reilly{at}ucl.ac.uk

Abstract

Charcot–Marie–Tooth disease is the commonest inherited neuromuscular disease. It is characterised by degeneration of peripheral sensory and motor nerves and can be classified into axonal and demyelinating forms. This review provides a diagnostic approach to patients with suspected inherited neuropathy and an algorithm for genetic testing that includes recent advances in genetics such as next-generation sequencing. We also discuss important aspects of the long-term management of patients with inherited neuropathy.

  • CLINICAL NEUROLOGY
  • GENETICS
  • NEUROMUSCULAR
  • HMSN (CHARCOT-MARIE-TOOTH)

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