Prevalence of Charcot-Marie-Tooth disease in patients who have bilateral cavovarus feet

Mary K Nagai, Gilbert Chan, James T Guille, S Jay Kumar, Mena Scavina, William G Mackenzie
Journal of Pediatric Orthopedics 2006, 26 (4): 438-43
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.

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