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          Gait impairments in people with Charcot-Marie-Tooth disease are the combined result of ankle-foot deformities, muscle weakness, and somatosensory impairments. People with Charcot-Marie-Tooth disease often experience pain and difficulties when walking, especially barefoot. They also trip and fall frequently and have a lower than normal gait speed and distance. Because these gait impairments and related complaints are disabling, clinical management aimed at improving gait is important. Management involves both conservative and surgical treatment options, each with limited scientific evidence. However, a treatment algorithm that describes both conservative and surgical treatment options is currently lacking. This study sets out a step-wise treatment algorithm, based on evidence, if available, and otherwise reflecting practice-based experience. The treatment algorithm will be of value in daily clinical practice, and will serve as a template for future research.

          LAY ABSTRACT

          Treatment of gait impairments in people with Charcot-Marie-Tooth disease is crucial, because it is a source of great disability. However, many clinicians find it difficult to treat these gait impairments in their daily clinical practice. This challenge is compounded by a lack of clear treatment protocols that take the whole spectrum of treatment options into account. As a result, there is wide variation in clinical practice. To address the widely felt need for a treatment algorithm, we present here a stepwise approach to the management of gait impairments in patients with Charcot-Marie-Tooth disease.

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          Diagnosis, natural history, and management of Charcot-Marie-Tooth disease.

          Charcot-Marie-Tooth disease is the most common inherited neuromuscular disorder. There have been substantial advances in elucidating the molecular bases of this genetically heterogeneous neuropathy and, in most cases, molecular diagnosis is now possible. The diagnostic approach requires careful assessment of clinical presentation and mode of inheritance, nerve-conduction studies, and DNA testing, and current research is focused on assessing natural history and finding effective treatments. Disease course is variable because of genotypic and phenotypic heterogeneity. At present, there is no drug therapy for Charcot-Marie-Tooth disease, and rehabilitation therapy and surgical procedures for skeletal deformities are the only available treatments, although best practice has not been defined. Animal models are proving useful for the identification of therapeutic targets and approaches. Progesterone antagonists, neurotrophic factors, ascorbic acid, and curcumin have shown promising results in experimental models, and ascorbic acid is being studied in large randomised controlled trials.
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            Neurological disorders of gait, balance and posture: a sign-based approach

            Neurological disorders of gait, balance and posture are both debilitating and common. Adequate recognition of these so-called disorders of axial mobility is important as they can offer useful clues to the underlying pathology in patients with an uncertain clinical diagnosis, such as those early in the course of neurological disorders. Medical teaching programmes typically take classic clinical presentations as the starting point and present students with a representative constellation of features that jointly characterize a particular axial motor syndrome. However, patients rarely present in this way to a physician in clinical practice. Particularly in the early stages of a disease, patients might display just one (or at best only a few) abnormal signs of gait, balance or posture. Importantly, these individual signs are never pathognomonic for any specific disorder but rather come with an associated differential diagnosis. In this Perspective, we offer a new diagnostic approach in which the presenting signs are taken as the starting point for a focused differential diagnosis and a tailored search into the underlying neurological syndrome.
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              The natural history of Charcot-Marie-Tooth type 1A in adults: a 5-year follow-up study.

              Charcot-Marie-Tooth type 1A is the most prevalent hereditary demyelinating polyneuropathy. The aim of this study was to investigate the natural history of the disease in adults during a 5-year follow-up and to compare the changes over time with those found in normal ageing. In a cohort of 46 adult Charcot-Marie-Tooth type 1A patients, impairments and physical disability were scored at baseline and at 1, 3 and 5 years. Standardized nerve conduction studies and electromyography were performed at baseline and at 5 years. Twenty-six healthy age- and sex-matched controls were evaluated at baseline and at 5 years. Forty-four of 46 Charcot-Marie-Tooth type 1A patients (range 17-69 years) and 26 controls (range 25-65 years) completed the 5-year follow-up. The decrease in muscle strength and in compound muscle action potential amplitudes was similar for patients and controls alike. However, in contrast to the control group, physical disability increased over time in the patient group. In patients, muscle strength and physical disability after 5 years were closely related to these parameters at baseline. None of the other assessed baseline characteristics, i.e. age, gender, compound muscle action potential amplitude and motor nerve conduction velocity, predicted the extent of deterioration of muscle strength or physical disability. In adult Charcot-Marie-Tooth type 1A patients, the decline in axonal function and in muscle strength may reflect, to a considerable extent, a process of normal ageing. The slow increase in physical disability in adulthood may well be explained by decreased reserves and compensatory mechanisms together with progression of skeletal deformations due to muscle weakness.

                Author and article information

                J Rehabil Med
                Journal of Rehabilitation Medicine
                Foundation for Rehabilitation Information
                21 April 2021
                : 53
                : 5
                : 2788
                [1 ]Radboud University Medical Center, Nijmegen, Donders Institute for Brain, Cognition and Behaviour, Department of Rehabilitation
                [2 ]Department of Rehabilitation, Sint Maartenskliniek
                [3 ]Research Department, Sint Maartenskliniek
                [4 ]Department of Orthopaedics, Sint Maartenskliniek, Nijmegen, The Netherlands
                [5 ]Department for Foot and Ankle Surgery, Orthopedic Clinic of the Hannover Medical School, Hannover, Germany
                [6 ]Klimmendaal Rehabilitation, Arnhem, The Netherlands
                [7 ]Department of Orthopaedic Surgery and Traumatology, Inselspital, Bern University Hospital, University of Bern, Bern, Switzerland
                Author notes
                Correspondence address: Jorik Nonnekes, Radboud University Medical Centre, PO Box 9101, 6500 HB Nijmegen, The Netherlands. E-mail: jorik.nonnekes@ 123456radboudumc.nl
                © 2021 Journal of Rehabilitation Medicine

                This work is licensed under a Creative Commons Attribution-NonCommercial 4.0 International License.

                : 29 March 2021
                Review Article

                charcot-marie-tooth disease,gait,rehabilitation,surgery
                charcot-marie-tooth disease, gait, rehabilitation, surgery


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