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    Muscle Nerve. 2009 Feb;39(2):158-66.

    Evolution of foot and ankle manifestations in children with CMT1A.

    Burns J, Ryan MM, Ouvrier RA.

    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

    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.

    PMID: 19145658 [PubMed - indexed for MEDLINE]

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