Charcot-Marie-Tooth neuropathies: diagnosis and management.

Abstract:

:Charcot-Marie-Tooth (CMT) disease is caused by mutations in several genes expressed in myelinating Schwann cells and the axons they ensheathe. Typical patients present with distally accentuated motor weakness, muscle wasting, and sensory loss leading to significant and progressive clinical morbidity and impaired quality of life. The wealth of recent information regarding genotype-phenotype correlations, recognition of disease heterogeneity, and newly characterized animal models provide exciting insights into the molecular disease-related pathogenetic and pathophysiologic mechanisms. These advances at the same time also represent a challenge for the diagnosis and management of these patients, with no presently available specific curative or disease modifying treatments. A better understanding of the pathogenesis of peripheral neuropathies is an invaluable tool in developing future supportive and curative therapies for patients with CMT disease that will improve their quality of life. In this review, we provide practical insights on current diagnostic and therapeutic modalities and suggest future diagnostic and therapeutic directions.

journal_name

Semin Neurol

journal_title

Seminars in neurology

authors

Jani-Acsadi A,Krajewski K,Shy ME

doi

10.1055/s-2008-1062264

subject

Has Abstract

pub_date

2008-04-01 00:00:00

pages

185-94

issue

2

eissn

0271-8235

issn

1098-9021

journal_volume

28

pub_type

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