Prevalence of CMT in Patients (children) Who Have Bilateral Cavovarus Feet

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J Pediatr Orthop. 2006 July/August;26(4):438-443.

Prevalence of Charcot-Marie-Tooth Disease in Patients Who Have

Bilateral Cavovarus Feet.

Nagai MK, Chan G, Guille JT, Kumar SJ, Scavina M, Mackenzie WG.

From the *Alfred I. duPont Hospital for Children, Wilmington, DE; and

daggerShriners Hospital for Children, Philadelphia, PA.

ABSTRACT:: It is not uncommon to see a patient with bilateral

cavovarus feet in the outpatient setting. A large percentage of these

patients are subsequently diagnosed with an associated condition,

such as Charcot-Marie-Tooth disease. The purpose of the present

report was to determine the prevalence of Charcot-Marie-Tooth disease

in children who have bilateral cavovarus feet.

A chart review of children with bilateral cavovarus feet was done.

Patients were excluded if they had an existing medical problem known

to be associated with bilateral cavovarus feet. Charcot-Marie-Tooth

disease was diagnosed after a clinical assessment by an orthopaedic

surgeon and a neurologist. The diagnosis was confirmed by either

standard nerve conduction velocity studies and/or the CMT DNA

Duplication Detection Test (Athena Diagnostics Inc, Worchester, MA).

A positive family history was noted only if the diagnosis had been

confirmed by a nerve conduction velocity study and/or CMT DNA

Duplication Detection Test.

One hundred forty-eight patients met the study criteria. The

probability of a patient with bilateral cavovarus feet being

diagnosed with Charcot-Marie-Tooth disease, regardless of family

history, was 78% (116 patients). A family history of Charcot-Marie-

Tooth disease increased the probability to 91%. It is recommended

that all patients with bilateral cavovarus feet, especially with a

known family history, be investigated for Charcot-Marie-Tooth disease.