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• W4283767677 abstract "The recent publication of clinical practice guidelines for the management of paediatric Charcot–Marie–Tooth disease (CMT) gives us the opportunity to reflect on progress in genetic testing, development of outcome measures, and management of childhood CMT.1 CMT is a phenotypically and genetically heterogeneous syndrome characterized by length-dependent axonal degeneration of the motor and sensory peripheral nerves. It is one of the most common neurogenetic diseases worldwide. Onset is often in childhood with affected children presenting with frequent trips and falls, and foot and hand deformity. Examination reveals distal predominant weakness, sensory loss, and areflexia. Weakness is caused by progressive axonal degeneration, either secondary to mutations in genes responsible for maintaining myelin integrity (CMT1) or primarily due to mutations in genes responsible for axonal function (CMT2). Next-generation sequencing has greatly improved the rate of genetic diagnosis with more than 80% of childhood CMT now being genetically classified.2 Well-validated functional outcome measures are required not only for use in clinical trials but also for monitoring disease progression in individuals. These are now available across the lifespan in CMT, with the CMT Infant Scale (CMTInfS) for children aged 0 to 4 years, CMT Pediatric Scale (CMTPedS) for children aged 3 to 21 years, and the recently developed CMT Functional Outcome Measure (CMT-FOM) for adults with CMT,3 and the rate of progression in childhood of the common genetic forms of CMT has been now been quantified.4 The CMT guidelines were developed by an international consortium of paediatric medical and allied health CMT experts and include evidence-based and Delphi-survey derived consensus-based recommendations. Progressive resistance training is safe and has been shown to attenuate progression of ankle dorsiflexion weakness in children with CMT. The guidelines also recommend a tailored strength training program to maintain strength and function, serial casting for ankle contractures, and the use of ankle-foot orthoses for foot drop or ankle instability. Regular surveillance for hip dysplasia and scoliosis in all children with CMT, monitoring of respiratory function in those with risk factors, and referral to an orthopaedic surgeon for management of painful foot deformity and refractory ankle contractures were also recommended. The use of adaptive equipment including word prediction and voice to text software was recommended for upper limb impairment, and the use of functional or resting splints for targeted activities in carefully selected children with hand dysfunction was suggested. With a good understanding of the natural history of the common genetic forms of CMT, published guidelines for clinical care, and excellent outcome measures we are now ready for paediatric clinical trials of disease-modifying therapies. As most forms of CMT have an early onset and continue to progress during childhood, any treatment needs to commence in childhood to achieve the best outcome. Unfortunately, there are still no effective therapies for CMT. Our incomplete understanding of the biology of CMT, current preclinical models not accurately reflecting human disease, and delivering the therapeutic agent to the target tissue (Schwann cells, motor or sensory neurons) remain significant challenges, though there have been promising developments, with a new phase III clinical trial for PXT3003 and encouraging developments in preclinical studies of gene silencing and gene therapy in CMT1A, CMTX, and CMT4C.5 It is pleasing to note the contribution of the Australian neuromuscular clinics to the international effort to improve the care of children with CMT. I would like to invite all readers to the 10th Annual Scientific Meeting of the Australia and New Zealand Child Neurology Society to be held between 7th to 9th September 2022 in Melbourne, Australia. The theme of this year's conference is ‘Interventional Child Neurology’ and we hope to showcase local research and review recent international advances in the management of childhood neurological disorders. Data sharing is not applicable to this article as no new data were created or analyzed in this study." @default.
• W4283767677 created "2022-07-03" @default.
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• W4283767677 date "2022-07-01" @default.
• W4283767677 modified "2023-10-14" @default.
• W4283767677 title "Advances in the management of <scp>Charcot–Marie–Tooth</scp> disease in childhood" @default.
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• W4283767677 doi "https://doi.org/10.1111/dmcn.15283" @default.
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