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Charcot-Marie-Tooth disease (CMT)聽鈥� a lifelong degenerative condition that causes damage to the nerves, muscle weakness, sensory problems, difficulty walking, foot deformity and associated pain 鈥� is the most common childhood inherited nerve disorder. Yet until now, there have been no guidelines to help patients manage their condition.

To address this need,聽 research associate Dr Eppie Yiu, Professor Joshua Burns and their team formed the Paediatric CMT Best Practice Guidelines Consortium, involving clinicians from Australia, Belgium, Canada, Croatia, the US, the Czech Republic, Italy and the UK.

Dr Yiu and Professor Burns led the effort to produce the guidelines, which address the management of clinical problems experienced by children with CMT and related neuropathies (weakness, numbness and pain from nerve damage), and advocate for improved access to multidisciplinary care. 鈥淭he aim was to develop evidence and consensus-based recommendations for the clinical management of children and adolescents with CMT,鈥� Dr Yiu said.

CMT usually starts during childhood and progresses over time, and while there is currently no cure, people with CMT can use a variety of therapies and strategies to help manage their symptoms.

Dr Yiu said the guidelines would promote optimal, standardised care for children with CMT globally, improve access to multidisciplinary care, such as via the National Disability Insurance Scheme (NDIS), and were critical for clinical trial readiness.

To develop the guidelines, the international panel of clinicians conducted a series of systematic reviews covering 10 clinical questions and evaluated the body of literature on CMT disease management. The panel then formulated recommendations based on these reviews.

Published in the Journal of Neurology, Neurosurgery and Psychiatry, the new guidelines include evidence and consensus-based recommendations for the management of muscle weakness, balance and mobility impairment, sensory symptoms, muscle cramps, impaired upper limb function, respiratory impairment, joint movement and non-surgical management of joint deformity.

Dr Yiu said she hoped the recommendations would be disseminated and implemented across multiple healthcare settings around the world to benefit children and young people with CMT.

鈥淭he guidelines are important for a range of medical and allied health clinicians who provide care to children with CMT, including neurologists, rehabilitation specialists, physiotherapists, occupational therapists, clinical nurse specialists and genetic counsellors,鈥� she said.

Clinicians from , ,, , and , , , and the also took part in the review.

Image credit: 漏stock.adobe.com/au/StockPhotoPro