Charcot-Marie-Tooth Disease and Other Genetic Polyneuropathies.

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.