Practical Neurology

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Practical Neurology 2007;7:93-105
Copyright © 2007 by the BMJ Publishing Group Ltd.
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Reviews

Sorting out the inherited neuropathies

Mary M Reilly

Consultant Neurologist and Honorary Senior Lecturer, Centre for Neuromuscular Disease and Department of Molecular Neurosciences, National Hospital for Neurology and Neurosurgery and Institute of Neurology, Queen Square, London WC1N 3BG, UK; m.reilly@ion.ucl.ac.uk

The first 150 words of the full text of this article appear below.

The inherited neuropathies are a large heterogeneous group which can be divided into those where the neuropathy is the sole or primary part of the disease, and those where it is part of a more widespread neurological or multisystem disorder (table 1Go). Here I will concentrate on the former group, especially Charcot-Marie-Tooth (CMT) disease and related disorders, with a particular emphasis on the diagnostic approach from a practising clinician’s perspective.


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  		Table 1 Classification of the inherited neuropathies
 
CHARCOT-MARIE-TOOTH DISEASE AND RELATED DISORDERS

Charcot-Marie-Tooth disease is not so much a single disease as a clinically and genetically heterogeneous group of inherited neuropathies, but for simplicity all types of CMT will just be referred to as CMT throughout this review. They are relatively common with an overall prevalence of 1 in 2500.1 CMT is also referred to as hereditary motor and sensory neuropathy (HMSN) but CMT is the preferred term.

CMT is characterised clinically by distal muscle wasting . . . [Full text of this article]


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EDITOR’S CHOICE
Charles Warlow
Practical Neurology 2007 7: 69. [Extract] [Full Text] [PDF]





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