PERIPHERAL NERVE AND NEURO-MUSCULAR JUNCTION DISEASE: Edited by Mary M. ReillyCharcot–Marie–Tooth disease and related disorders: an evolving landscapeLaurá, Matilde; Pipis, Menelaos; Rossor, Alexander M.; Reilly, Mary M.Author Information MRC Centre for Neuromuscular Diseases, UCL Queen Square Institute of Neurology, London, UK Correspondence to Matilde Laurá, MRC Centre for Neuromuscular Diseases, UCL Queen Square Institute of Neurology, London WC1N 3BG, UK. Tel: +44 2034488024; fax: +44 020 3448 3633; e-mail: [email protected] Current Opinion in Neurology: October 2019 - Volume 32 - Issue 5 - p 641-650 doi: 10.1097/WCO.0000000000000735 Buy Metrics Abstract Purpose of review Charcot–Marie–Tooth (CMT) disease and related disorders are the commonest group of inherited neuromuscular diseases and represent a heterogeneous group of disorders. This review will cover recent advances in genetic diagnosis and the evolving genetic and phenotype landscape of this disease group. We will review recent evidence of the increasingly recognized phenotypic overlap with other neurodegenerative conditions including hereditary spastic paraplegia, hereditary ataxias and mitochondrial diseases and highlight the importance of deep phenotyping to inform genetic diagnosis and prognosis. Recent findings Through whole exome sequencing and multicentre collaboration new genes are being identified as causal for CMT expanding the genetic heterogeneity of this condition. In addition, an increasing number of variants have been identified in genes known to cause complex inherited diseases in which the peripheral neuropathy is part of the disorder and may be the presenting feature. The recent discovery of a repeat expansion in the RFC1 gene in cerebellar ataxia, neuropathy, vestibular areflexia syndrome highlights the prevalence of late-onset recessive conditions which have historically been considered to cause early-onset disease. Summary CMT is an evolving field with considerable phenotypic and genetic heterogeneity and deep phenotyping remains a cornerstone in contemporary CMT diagnostics. Copyright © 2019 Wolters Kluwer Health, Inc. All rights reserved.