title: Prevalence of Charcot-Marie-Tooth disease in patients who have bilateral cavovarus feet.
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.
authors.affiliation: Alfred I. duPont Hospital for Children, Wilmington, DE, USA.
authors.forename: Mary K
authors.initials: MK
authors.lastname: Nagai
authors.forename: Gilbert
authors.initials: G
authors.lastname: Chan
authors.forename: James T
authors.initials: JT
authors.lastname: Guille
authors.forename: S Jay
authors.initials: SJ
authors.lastname: Kumar
authors.forename: Mena
authors.initials: M
authors.lastname: Scavina
authors.forename: William G
authors.initials: WG
authors.lastname: Mackenzie
mesh_terms: D000293:Adolescent; D002607:Charcot-Marie-Tooth Disease / Q000150:complications / Q000175:diagnosis / Q000453:epidemiology*; D002648:Child; D002675:Child, Preschool; D003937:Diagnosis, Differential; D004576:Electromyography; D005260:Female; D005500:Follow-Up Studies; D005530:Foot Deformities / Q000000981:diagnostic imaging / Q000209:etiology*; D006801:Humans; D008297:Male; D015995:Prevalence; D011859:Radiography; D012189:Retrospective Studies