Charcot-marie-tooth disease

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Foot Ankle Spec. 2008 Dec;1(6):350-4.

Charcot-marie-tooth disease.

Casasnovas C, Cano LM, Albertí A, Céspedes M, Rigo G.

Neuromuscular Unit,Neurology Department, Hospital Universitari de

Bellvitge,L'Hospitalet de Llobregat, Barcelona, Spain.

Charcot-Marie-Tooth disease (CMT) or hereditary motor and sensory neuropathy

constitutes a genetically heterogeneous group of diseases that affect the

peripheral nervous system. CMT is characterized by degeneration or abnormal

development of the peripheral nerve and is transmitted with different genetic

patterns. In most cases, the disease starts in infancy.

Its symptoms, among others, are an awkward gait; muscular atrophy of the 4

extremities, particularly distally; and foot deformities, such as cavus foot.

People with CMT have an altered gait; most have a high stepping gait and

frequently trip or fall.

CMT disease can be classified according to the pattern of inheritance (autosomal

dominant, autosomal recessive, or X-linked), electrophysiological findings

(evidence of demyelination or axonal degeneration), or the mutated gene that

causes the disease.

This classification of CMT is complex and continually updated as new genes and

mutations are found. CMT should be suspected in any patient with cavus foot,

particularly if other members of the family have been diagnosed with the

disease.

Treatment decisions must be individualized and based on a clear history, careful

examination, and well-defined patient goals.