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Journal of Biomedicine and Biotechnology
Volume 2009 (2009), Article ID 985415, 10 pages
Review Article

Diagnosis of Charcot-Marie-Tooth Disease

1Molecular Diagnosis Center of Inherited Diseases, Institut de Investigació Biomèdica de Bellvitge (IDIBELL), Gran Via 199, 08907 L'Hospitalet de Llobregat, Barcelona, Spain
2Unitat de Neuromuscular, Neurology Department, Hospital Universitari de Bellvitge-IDIBELL, Feixa Llarga s/n, 08907 L'Hospitalet de Llobregat, Barcelona, Spain

Received 24 March 2009; Revised 24 June 2009; Accepted 8 July 2009

Academic Editor: John McGregor

Copyright © 2009 Isabel Banchs et al. This is an open access article distributed under the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.


Charcot-Marie-Tooth (CMT) disease or hereditary motor and sensory neuropathy (HMSN) is a genetically heterogeneous group of conditions that affect the peripheral nervous system. The disease is characterized by degeneration or abnormal development of peripheral nerves and exhibits a range of patterns of genetic transmission. In the majority of cases, CMT first appears in infancy, and its manifestations include clumsiness of gait, predominantly distal muscular atrophy of the limbs, and deformity of the feet in the form of foot drop. It can be classified according to the pattern of transmission (autosomal dominant, autosomal recessive, or X linked), according to electrophysiological findings (demyelinating or axonal), or according to the causative mutant gene. The classification of CMT is complex and undergoes constant revision as new genes and mutations are discovered. In this paper, we review the most efficient diagnostic algorithms for the molecular diagnosis of CMT, which are based on clinical and electrophysiological data.