title: Evolution of foot and ankle manifestations in children with CMT1A.
abstract: We studied the timing and progression of foot and ankle changes in 81 children with genetically confirmed Charcot-Marie-Tooth disease type 1A (CMT1A) and determined their impact on motor function and walking ability. Foot deformity, weakness, pain, cramps, and instability were a common feature of CMT1A. Foot structure evolved toward pes cavus from early childhood to adolescence, although a subgroup with normal and planus feet remained. Foot strength increased with age, although compared to age-equivalent norms it declined from 4 years. Factors associated with evolving foot deformity included muscle weakness/imbalance, restricted ankle flexibility, and joint hypermobility. Regression modeling identified dorsiflexion weakness, global foot weakness, and difficulty toe-walking as independent predictors of motor dysfunction, while pes cavus and difficulty heel-walking were predictors of poor walking ability. Foot problems are present from the earliest stages of the disease and can have a negative impact on function. Early foot and ankle intervention may prevent long-term disability and morbidity in CMT1A.
authors.affiliation: Discipline of Paediatrics and Child Health, Faculty of Medicine, University of Sydney/Institute for Neuromuscular Research, Children's Hospital at Westmead, Locked Bag 4001, Westmead, Sydney, NSW 2145 Australia. joshuab2@chw.edu.au
authors.forename: Joshua
authors.initials: J
authors.lastname: Burns
authors.forename: Monique M
authors.initials: MM
authors.lastname: Ryan
authors.forename: Robert A
authors.initials: RA
authors.lastname: Ouvrier
mesh_terms: D000293:Adolescent; D000367:Age Factors; D000843:Ankle Joint / Q000503:physiopathology*; D002607:Charcot-Marie-Tooth Disease / Q000150:complications / Q000235:genetics / Q000473:pathology*; D002648:Child; D002675:Child, Preschool; D018450:Disease Progression; D005260:Female; D005528:Foot / Q000503:physiopathology*; D005530:Foot Deformities / Q000209:etiology; D006801:Humans; D008297:Male; D009043:Motor Activity; D015999:Multivariate Analysis; D018908:Muscle Weakness / Q000209:etiology; D012044:Regression Analysis; D016138:Walking / Q000502:physiology