Charcot-Marie-Tooth Disease and Other Genetic Polyneuropathies

Sindhu Ramchandren, MD, MS Peripheral Nerve and Motor Neuron Disorders p. 1360-1377 October 2017, Vol.23, No.5 doi: 10.1212/CON.0000000000000529
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Purpose of Review: Genetic polyneuropathies are rare and clinically heterogeneous. This article provides an overview of the clinical features, neurologic and electrodiagnostic findings, and management strategies for Charcot-Marie-Tooth disease and other genetic polyneuropathies as well as an algorithm for genetic testing.

Recent Findings: In the past 10 years, many of the mutations causing genetic polyneuropathies have been identified. International collaborations have led to the development of consortiums that are undertaking careful genotype-phenotype correlations to facilitate the development of targeted therapies and validation of outcome measures for future clinical trials. Clinical trials are currently under way for some genetic polyneuropathies.

Summary: Readers are provided a framework to recognize common presentations of various genetic polyneuropathies and a rationale for current diagnostic testing and management strategies in genetic polyneuropathies.

Relationship Disclosure: Dr Ramchandren has served on advisory boards for Biogen and Sarepta Therapeutics, Inc, and has received research/grant support from the Muscular Dystrophy Association (Foundation Clinic Grant) and the National Institutes of Health (K23 NS072279).

Unlabeled Use of Products/Investigational Use Disclosure: Dr Ramchandren reports no disclosure.

Address correspondence to Dr Sindhu Ramchandren, University of Michigan, Department of Neurology, 2301 Commonwealth Blvd #1023, Ann Arbor, MI 48105, [email protected].

Copyright © 2017 by the American Academy of Neurology.