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Semin Neurol 2012; 32(03): 204-214
DOI: 10.1055/s-0032-1329198
Thieme Medical Publishers 333 Seventh Avenue, New York, NY 10001, USA.

Inherited Neuropathies

Jun Li
1   Department of Neurology, Center for Molecular Neuroscience, Center for Human Genetics Research, Vanderbilt University School of Medicine, Nashville, Tennessee
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Publication History

Publication Date:
01 November 2012 (online)

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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.

Keywords

Charcot-Marie-Tooth disease - neuropathy - dysmyelination - demyelination - axonal degeneration - nerve conduction study - sural nerve biopsy - PMP22 - MPZ - mitofusin-2 - genetics - DNA testing
 

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