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, firstname.lastname@example.org.