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Overview of hereditary neuropathies

INTRODUCTION

The hereditary peripheral neuropathies have been classified based upon clinical characteristics, mode of inheritance, electrophysiologic features, metabolic defect, and subsequently upon specific genetic markers. The primary hereditary neuropathies predominantly or exclusively affect peripheral nerves and produce symptoms of peripheral nerve dysfunction. Other hereditary neuropathies affect both the central and peripheral nervous systems and, in some cases, other organs; in such patients, symptoms related to the peripheral neuropathy may be overshadowed by other manifestations of the disease.

This topic will provide an overview of the hereditary neuropathies. Detailed discussions are found separately. (See "Hereditary primary motor sensory neuropathies, including Charcot-Marie-Tooth disease" and "Hereditary sensory and autonomic neuropathies" and "Hereditary neuropathies associated with generalized disorders".)

CLASSIFICATION

Historically, the primary hereditary neuropathies were designated by eponyms that had the connotation of specific clinical features (eg, Charcot-Marie-Tooth disease or Dejerine-Sottas disease). However, phenotypic variability resulted in substantial diagnostic confusion. The Dyck classification developed in the 1970s helped to define specific types based upon clinical and electrophysiologic features [1].

Many of the primary hereditary neuropathies were divided into motor-sensory and sensory–autonomic neuropathies.

The motor-sensory category was subdivided into types 1 through 7 and the sensory neuropathies into types 1 through 5. Many of these types were further divided into subcategories.

        

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Literature review current through: Jun 2014. | This topic last updated: May 16, 2014.
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References
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