Charcot-marie-tooth neuropathies: diagnosis and management.

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Semin Neurol. 2008 Apr;28(2):185-94.

Charcot-marie-tooth neuropathies: diagnosis and management.

Jani-Acsadi A, Krajewski K, Shy ME.

Department of Neurology, Wayne State University School of Medicine,

Detroit, Michigan.

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.