期刊
MUSCLE & NERVE
卷 39, 期 2, 页码 158-166出版社
WILEY
DOI: 10.1002/mus.21140
关键词
Charcot-Marie-Tooth disease; peripheral neuropathy; foot; child; muscle
资金
- University of Sydney Research and Development Scheme
- National Health and Medial Research Council of Australia [336705]
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 toot and ankle intervention may prevent long-term disability and morbidity in CMT1A.
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