INTRODUCTION: Given its association with Charcot-Marie-Tooth disease (CMT), pes cavus is a common reason for referral to a neurologist. We investigated clinical features that may predict CMT in children with pes cavus. METHODS: In this study we retrospectively reviewed pes cavus patients referred to Boston Children's Hospital in the past 20 years. Patients were categorized as idiopathic or CMT, based on EMG/genetic testing, and their clinical features were compared. RESULTS: Of the 70 patients studied, 33 had idiopathic pes cavus, and 37 had genetically confirmed CMT. Symptoms of weakness, unsteady gait, family history of pes cavus and CMT, and signs of sensory deficits, distal atrophy and weakness, absent ankle jerks, and gait abnormalities were associated with CMT. CONCLUSIONS: In children with pes cavus, certain clinical features can predict CMT and assist in selection of patients for further, potentially uncomfortable (EMG) and expensive (genetic) confirmatory investigations.
INTRODUCTION: Given its association with Charcot-Marie-Tooth disease (CMT), pes cavus is a common reason for referral to a neurologist. We investigated clinical features that may predict CMT in children with pes cavus. METHODS: In this study we retrospectively reviewed pes cavus patients referred to Boston Children's Hospital in the past 20 years. Patients were categorized as idiopathic or CMT, based on EMG/genetic testing, and their clinical features were compared. RESULTS: Of the 70 patients studied, 33 had idiopathic pes cavus, and 37 had genetically confirmed CMT. Symptoms of weakness, unsteady gait, family history of pes cavus and CMT, and signs of sensory deficits, distal atrophy and weakness, absent ankle jerks, and gait abnormalities were associated with CMT. CONCLUSIONS: In children with pes cavus, certain clinical features can predict CMT and assist in selection of patients for further, potentially uncomfortable (EMG) and expensive (genetic) confirmatory investigations.
Authors: Roberto Di Fabio; Ludovico Lispi; Filippo Maria Santorelli; Claudio Castagnoli; Andrea Matrigale; Alessandra Dentini; Nicoletta Locuratolo; Francesco Fattapposta; Francesco Pierelli Journal: Neurol Sci Date: 2015-07-21 Impact factor: 3.307
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Authors: Matilde Laurá; Dishan Singh; Gita Ramdharry; Jasper Morrow; Mariola Skorupinska; Davide Pareyson; Joshua Burns; Richard A Lewis; Steven S Scherer; David N Herrmann; Nicholas Cullen; Christopher Bradish; Luca Gaiani; Nicolò Martinelli; Paul Gibbons; Glenn Pfeffer; Phinit Phisitkul; Keith Wapner; James Sanders; Sam Flemister; Michael E Shy; Mary M Reilly Journal: Muscle Nerve Date: 2017-07-07 Impact factor: 3.217
Authors: Cyntia Rogean de Jesus Alves de Baptista; Adriana Nascimento-Elias; Tenysson Will Lemos; Beatriz Garcia; Paula Domingues Calori; Ana Claudia Mattiello-Sverzut Journal: PLoS One Date: 2018-10-10 Impact factor: 3.240