Treatment and Management of Hereditary Neuropathies

William Motley, Vinay Chaudry, Thomas E. Lloyd

Research output: Chapter in Book/Report/Conference proceedingChapter

Abstract

Hereditary neuropathy remains a major cause of neuropathy in patients referred to tertiary centers, estimated to represent 25% to 40% of all causes of neuropathy. With a prevalence of 1 per 2500, Charcot-Marie-Tooth (CMT) is the most common inherited neurologic disorder, affecting approximately 150, 000 Americans. The advent of next-generation sequencing technologies and its use in gene discovery and primary diagnosis has sustained an explosion in the number of genes and alleles associated with hereditary neuropathy. The characterization of genetic mutations underlying these familial diseases has led to an understanding of disease pathogenesis and has heralded a new era of rational targeted therapies. In this chapter, we will take a practical approach to caring for patients with familial neuropathy with overviews of presentations, diagnosis, and treatment. To lay a foundation for our disease-focused discussions, we will discuss targeted therapies and their treatment paradigms and give examples of early successes in the clinic. We cover both nonsyndromic inherited neuropathies and syndromic inherited neuropathies, systemic genetic disorders in which peripheral neuropathy is a major clinical feature.

Original languageEnglish (US)
Title of host publicationNeuromuscular Disorders
Subtitle of host publicationTreatment and Management
PublisherElsevier
Pages278-311
Number of pages34
ISBN (Electronic)9780323713177
DOIs
StatePublished - Jan 1 2021

Keywords

  • Antisense oligonucleotide therapies
  • Charcot-Marie-Tooth disease
  • Gene therapy
  • Gene-targeted therapies
  • Inherited neuropathies
  • RNA-based therapies
  • Syndromic neuropathies

ASJC Scopus subject areas

  • General Medicine

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