From gene disease; CMT disease or the hereditary motor and sensory neuropathies

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Ned Tijdschr Geneeskd. 2005 Jul 2;149(27):1505-9.

From gene disease; Charcot-Marie-Tooth disease or the hereditary

motor and sensory neuropathies

Verhamme C, Baas F.

Afd. Neurologie, Academisch Medisch Centrum/Universiteit van

Amsterdam, Postbus 22.660, 1100 DD Amsterdam.

Charcot-Marie-Tooth disease is a clinically and genetically

heterogeneous group of inherited neuropathies. The common clinical

symptoms include distal muscle weakness, wasting and impaired distal

sensation, more in the legs than in the arms, and reduced or absent

reflexes. Moreover, foot and hand deformities are often encountered.

A distinction between a primarily demyelinating or axonal neuropathy

is often possible by means of nerve conduction studies. The major

groups of inheritance are the autosomal dominant CMT1

(demyelinating), CMT2 (axonal) and the X-linked type (CMTX), but

there are also autosomal recessive demyelinating (CMT4) and axonal

(AR-CMT2) forms. The number of genes and loci is steadily increasing,

with genes encoding proteins involved in myelin maintenance and

axonal function, but also with genes encoding proteins, the function

of which in peripheral nerve maintenance is not yet clear. Despite

the increase in the number of known genes, especially for CMT2, there

are many patients in whom no mutation can yet be found.