Charcot-Marie-Tooth disease

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Acta Neurol Taiwan. 2008 Sep;17(3):203-13.

Charcot-Marie-Tooth disease

Lee YC, Chang MH, Lin KP.

Section of Neurology, Taichung Veterans General Hospital, Taichung,

Taiwan.

Charcot-Marie-Tooth disease (CMT), also called hereditary motor and

sensory neuropathy (HMSN), is the most common inherited peripheral

neuropathy, comprised by a group of genetically heterogeneous

disorders that share clinical characteristics of progressive distal

muscle weakness and atrophy, foot deformities, distal sensory loss,

and depressed tendon reflexes.

It can be categorized according to its electrophysiological or

pathological features, transmission patterns, age of disease onset,

and molecular pathology. CMT type 1 (CMT1; MIM 118200) is a group of

autosomal dominant-inherited demyelinating neuropathies with a

disease onset at or after childhood. Five different subtypes have

been identified based on different causative genes. Among them, CMT1A

(MIM #118220) is most common and is usually associated with a

duplication of a 1.5-Mb region on chromosome 17p11.2, which includes

peripheral myelin protein 22 gene (PMP22; MIM *601097).

Currently, there is no cure or obviously effective disease-modifying

treatment for CMT. Two potential effective therapeutic agents for

CMT1A were investigated recently. One is ascorbic acid and another is

neurotrophin-3 (NT-3), an important component of the Schwann cell

autocrine survival loop.

Early diagnosis can facilitate CMT patients to modify their life

styles timely for minimizing nerve injury to delay or avoid

disability. Molecular diagnosis of CMT can provide the basis for

appropriate genetic counseling and further CMT research.