Charcot-Marie-Tooth (CMT) disease: an update

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Med Sci (Paris). 2010 Oct;26(10):842-7.

Charcot-Marie-Tooth (CMT) disease: an update

Vallat JM, Funalot B.

J.M. Vallat : Service de neurologie, Laboratoire de neuropathologie, Centre de

référence « neuropathies périphériques rares ». B. Funalot : Laboratoire de

biochimie et génétique moléculaire. CHU de Limoges, 2, avenue

-Luther-King, 87042 Limoges Cedex, France.

Abstract

Charcot-Marie-Tooth (CMT) « disease » is the generic name given to a group of

genetic disorders characterized by a relatively isolated dysfunction of

peripheral nerves, with combined motor and sensory impairment. These CMT

syndromes are the most frequent genetically-determined peripheral neuropathies,

with a global prevalence between 4.7 and 36/100 000.

Their clinical phenotype is predominantly motor, with a grossly symmetrical

distal amyotrophy involving both lower and upper limbs. Mode of inheritance is

variable: autosomal dominant, autosomal recessive or X-linked.

Apparently sporadic forms can be a difficult diagnosis and they must be

considered in all patients with a chronic polyneuropathy which is not clearly of

acquired origin.

During the last two decades, the identification of more than 25 genes mutated in

CMT syndromes has complicated the classification of these disorders. Knowledge

of the function of some of these genes has improved our understanding of the

pathogenesis of myelinic or axonal dysfunction in CMT, but for some others their

function remains elusive or unknown.