Abstract
The inherited neuropathy literature is complex, in part because of the incomplete correlation between genotype and phenotype and in part because of the confusing array of terminology that has been used to describe and classify these disorders. The terms “hereditary motor and sensory neuropathy” (HMSN) and “Charcot-Marie Tooth” (CMT) have both been used to describe the same group of disorders. HMSN-I and HMSN-II are synonymous with CMT-1 and CMT-2 respectively, with the distinction between CMT 1 (HMSN-1) and CMT-2 (HMSN-2) being based on the electrophysiological finding of marked slowing of motor conduction velocities in the former. Recent advances in molecular genetics have shown that mutations in several different genes may underlie the various inherited neuropathies. The expanding array of genetic mutations has further complicated the classification of this group of disorders. The current approach rests on the mode of inheritance and electrophysiological features of the disorder. A simplified classification is presented in Table 14.1. Most of the inherited neuropathy literature has focused on diagnostic issues, with relatively little attention paid to treatment and prognosis. This bias is reflected in this chapter, in which we examine the clinical and electrophysiological features of the hereditary neuropathies and ask whether the various disorders can be differentiated on clinical or electrical grounds. We also consider the electrophysiological differences between acquired and hereditary neuropathies of both the demyelinating and axonal types. Finally, we do consider several treatment and prognosis related issues.
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© 2006 Humana Press Inc., Totowa, NJ
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Benatar, M. (2006). Inherited Neuropathies. In: Benatar, M. (eds) Neuromuscular Disease. Humana Press. https://doi.org/10.1007/978-1-59745-106-2_14
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DOI: https://doi.org/10.1007/978-1-59745-106-2_14
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