Charcot-Marie-Tooth disease

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Rom J Morphol Embryol. 2008;49(1):115-9.

Charcot-Marie-Tooth disease.

Buteicã E, Roºulescu E, Stãnoiu B, Burada F, Stãnoiu C, Zãvãleanu M.

Department of Genetics, University of Medicine and Pharmacy of

Craiova, Romania.

Charcot-Marie-Tooth (CMT) disease is a group of genetic peripheral

neuropathies that is associated with a broad variety of clinical

genetic features. Most CMT syndromes are characterized by a

progressive muscle weakness and atrophy with a distally pronounced

sensory dysfunction. Bone deformities as pes cavus or hammertoes are

frequent. The severity of disability varies considerably between

different subclasses. Physical examination, electrophysiological

testing and family history are current methods to investigate a

patient affected by CMT. We used these methods for clinical

assessment of two cases. Whenever available molecular genetic testing

establishes the certain diagnosis and defines the type of CMT.