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Hereditary sensory and autonomic neuropathies

Author
Robert P Cruse, DO
Section Editors
Douglas R Nordli, Jr, MD
Helen V Firth, DM, FRCP, DCH
Jeremy M Shefner, MD, PhD
Deputy Editor
John F Dashe, MD, PhD

INTRODUCTION

The hereditary peripheral neuropathies have been classified based upon clinical characteristics, mode of inheritance, electrophysiologic features, metabolic defect, and specific genetic markers. 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 primary hereditary sensory and autonomic neuropathies are reviewed here. The primary hereditary motor sensory neuropathies and the disorders affecting both the central and peripheral nervous systems are discussed separately. (See "Overview of hereditary neuropathies" and "Hereditary primary motor sensory neuropathies, including Charcot-Marie-Tooth disease" and "Neuropathies associated with hereditary disorders".)

OVERVIEW

Hereditary sensory and autonomic neuropathies (HSANs) occur much less frequently than do the primary hereditary motor sensory neuropathies (HMSNs). The major feature of the HSANs is loss of large myelinated and unmyelinated fibers. They have been categorized into types one through five, although some children do not fit well into this classification (table 1) [1,2]. Our understanding of the basic genetic abnormalities in these diseases is substantially less than that of the hereditary motor sensory neuropathies.

HSAN1

Hereditary sensory and autonomic neuropathy type I (also known as hereditary sensory neuropathy type I and hereditary sensory radicular neuropathy) is the most common form of HSAN. It is characterized by progressive degeneration of dorsal root ganglion and motor neurons, leading to distal sensory loss and later distal muscle wasting and weakness and variable neural deafness [3,4].

Genetics — HSAN1 is genetically heterogeneous. Most cases show autosomal dominant inheritance. At least four genes have been implicated in the disorder, but most of the genetic loci are unknown [5].

               

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Literature review current through: Nov 2016. | This topic last updated: Wed Oct 14 00:00:00 GMT+00:00 2015.
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