Patients with Charcot-Marie-Tooth (CMT) disease most commonly have a slowly progressive neuropathy where ankle dorsiflexion weakness is much more prominent than ankle plantar flexion weakness. The eventual involvement of the ankle plantar flexors has major functional consequences for patients as they lose the ability to stand still. We have found the knee bob sign whereby both knees bob up and down when standing still to be a reliable marker of ankle plantar flexion weakness in CMT.
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Funding AR is very grateful for his current funding of a fellowship from the National Institutes of Neurological Diseases and Stroke and office of Rare Diseases (U54NS065712). He has also been in receipt of an IPSEN clinical research fellowship. SM is also grateful for her fellowship from the National Institutes of Neurological Diseases and Stroke and office of Rare Diseases (U54NS065712). MMR is grateful to the Medical Research Council (MRC), the Muscular Dystrophy Campaign and the National Institutes of Neurological Diseases and Stroke and office of Rare Diseases (U54NS065712) for their support. This work was undertaken at University College London Hospitals/University College London, which received a proportion of funding from the Department of Health's National Institute for Health Research Biomedical Research Centre's funding scheme.
Competing interests None.
Patient consent Obtained.
Provenance and peer review Not commissioned; externally reviewed. This paper was reviewed by Haider Katifi, Southampton, UK.
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