Charcot-Marie-Tooth Disease and Other Genetic Polyneuropathies

Sindhu Ramchandren
Continuum: Lifelong Learning in Neurology 2017, 23 (5, Peripheral Nerve and Motor Neuron Disorders): 1360-1377

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.

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