Charcot-Marie-Tooth Disease

J. Li

doi:10.1016/B978-0-12-385157-4.00653-9

Charcot-Marie-Tooth Disease

Research output: Chapter in Book/Report/Conference proceeding › Chapter

Abstract

Mutations in more than 35 human genes cause inherited peripheral nerve diseases that are collectively called Charcot-Marie-Tooth disease (CMT). CMT with a prevalence of 1 out of 2500 people is among the most common inherited neurological disorders. A majority of patients with CMT present with chronic distal muscle weakness, sensory loss in feet and hands, and foot deformities that result in disabilities. Clinical similarities among patients demand molecular and genetic tools to reach a precise diagnosis. In this article, the authors will review the clinical, electrodiagnostic, genetic, and pathological features of CMT.

Original language	English (US)
Title of host publication	Encyclopedia of the Neurological Sciences
Publisher	Elsevier
Pages	756-763
Number of pages	8
ISBN (Electronic)	9780123851574
ISBN (Print)	9780123851581
DOIs	https://doi.org/10.1016/B978-0-12-385157-4.00653-9
State	Published - Jan 1 2014

Keywords

Axonal degeneration
Charcot-Marie-Tooth disease
Demyelination
DNA testing
Dysmyelination
Genetic testing
Genetics
Mitofusin-2
MPZ
Nerve conduction study
Neuropathy
PMP22
Sural nerve biopsy

ASJC Scopus subject areas

Medicine(all)

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10.1016/B978-0-12-385157-4.00653-9

Cite this

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abstract = "Mutations in more than 35 human genes cause inherited peripheral nerve diseases that are collectively called Charcot-Marie-Tooth disease (CMT). CMT with a prevalence of 1 out of 2500 people is among the most common inherited neurological disorders. A majority of patients with CMT present with chronic distal muscle weakness, sensory loss in feet and hands, and foot deformities that result in disabilities. Clinical similarities among patients demand molecular and genetic tools to reach a precise diagnosis. In this article, the authors will review the clinical, electrodiagnostic, genetic, and pathological features of CMT.",

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KW - Neuropathy

KW - PMP22

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Charcot-Marie-Tooth Disease

Abstract

Keywords

ASJC Scopus subject areas

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