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Review
. 2009:2009:985415.
doi: 10.1155/2009/985415. Epub 2009 Oct 8.

Diagnosis of Charcot-Marie-Tooth disease

Isabel Banchs  1 , Carlos Casasnovas, Antonia Albertí, Laura De Jorge, Mónica Povedano, Jordi Montero, Juan Antonio Martínez-Matos, Victor Volpini
Affiliations
Review

Diagnosis of Charcot-Marie-Tooth disease

Isabel Banchs et al. J Biomed Biotechnol. 2009.

Abstract

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.

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Figures

Figure 1
Figure 1
Foot drop in a patient with CMT1 caused by duplication of the genomic fragment that encompasses PMP22 (CMT1A).
Figure 2
Figure 2
Diagnostic protocol for demyelinating CMT (adapted from England et al.) [10, 11].
Figure 3
Figure 3
Severe atrophy of the intrinsic hand muscles of a patient with CMT2 who carries a mutation in MFN2 (CMT2A).
Figure 4
Figure 4
Diagnostic protocol for axonal CMT; adapted from England JD et al. [10, 11].
Figure 5
Figure 5
Very severe atrophy in the arms of a patient carrying a homozygous mutation in the GDAP1 gene (CMT4).
Figure 6
Figure 6
Diagnostic protocol of CMT with a suspected recessive inheritance pattern (adapted from England et al.) [10, 11].
See this image and copyright information in PMC

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