Inherited neuropathies

Abstract

With a prevalence of 1 in 2500 people, inherited peripheral nerve diseases, collectively called Charcot-Marie-Tooth disease (CMT), are among the most common inherited neurologic disorders. Patients with CMT typically present with chronic muscle weakness and atrophy in limbs, sensory loss in the feet and hands, and foot deformities. Clinical similarities between patients often require genetic testing to achieve a precise diagnosis. In this article, the author reviews the clinical and pathologic features of CMT, and demonstrates how electrodiagnostic and genetic tools are used to assist in the diagnosis and symptomatic management of the diseases. Several cases are presented to illustrate the diagnostic processes.

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Figures

Figure 1

(A) Sciatic nerve section from normal control autopsy, stained with Toluidine blue, contains numerous myelinated nerve fibers. (B) In contrast, a semithin section from the tibial nerve of a patient with axonal form of MPZ mutation, also stained with Toluidine blue, showed a reduced density of myelinated nerve fibers with many regenerating clusters (arrowheads). These features are consistent with axonal type of neuropathy. (C) A semithin section from a sural nerve biopsy of a patient with CMT1B showed numerous onion bulbs (arrowheads) with severely reduced densityof myelinated nervefibers. These features are typical for CMT1. (Reprinted with permission from Li J et al and Bai et al)

Figure 2

Diagnostic algorithm in patients with Charcot-Marie-Tooth disease.