The first ever clinical practice guidelines for children with Charcot-Marie-Tooth disease (CMT) have been published after a decade of work by an international team.

CMT is a group of degenerative genetic disorders affecting the peripheral nervous system, the nerves stretching from the spinal cord to the muscles. It’s a lifelong condition which usually starts in childhood and progresses into adulthood, causing muscle weakness, sensory problems, difficulty walking, foot deformity and associated chronic pain.

This disease is the most common inherited nerve disorder and for which there is no cure. There are therapies and strategies available, but until now there had been no guidelines to help clinicians and patients manage the condition.

Seeing this need, the Paediatric CMT Best Practice Guidelines Consortium was formed involving a multidisciplinary team of health professionals and consumer representatives from across Australia, UK, US, Canada, Belgium, Croatia, Czech Republic and Italy.

This international effort was led by Professor Joshua Burns at Sydney Children’s Hospitals Network (SCHN), including Kids Neuroscience Centre, Kids Research, and University of Sydney (USyd), and Dr Eppie Yiu at Murdoch Children’s Research Institute (MCRI), and involved Dr Paula Bray, SCHN Director of Research, Dr Manoj Menezes, SCHN and USyd, and Associate Professor Michelle Farrar, SCHN and UNSW.

Together, the team developed world-first guidelines to address the management of common clinical problems experienced by children with CMT and related neuropathies and to advocate for improved access to multidisciplinary care, such as via the National Disability Insurance Scheme (NDIS).

It includes 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.

Prof Burns said the guidelines are a landmark for the standardised care of children with CMT.

"This represents a 10-year international effort which brought together an array of multidisciplinary health professionals with expertise in paediatric and adult neurology, physical medicine and rehabilitation, physiotherapy, occupational therapy, podiatry, genetic counselling and dietetics as well as scientists, child and adult consumer representatives and several patient advocacy groups around the world."

Dr Yiu said she hoped it would be implemented across healthcare settings around the world.

"The 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."

The international panel formulated the guidelines by conducting a series of systematic reviews using 10 clinical questions and by evaluating the body of literature on CMT management.

The reviews involved clinicians across SCHN, USyd, UNSW, Macquarie University and Concord Hospital, The Royal Children’s Hospital, University of Melbourne, The Children's Hospital of Philadelphia, University of Antwerp, Stanford and University of Pennsylvania.

The guidelines have been published in the Journal of Neurology, Neurosurgery and Psychiatry.