The worlds-first clinical practice guidelines have been developed for children with Charcot-Marie-Tooth disease.
Charcot-Marie-Tooth disease is a group of inherited conditions that damage the peripheral nerves. These nerves can be found outside the main central nervous system (the brain and spinal cord) and they control the muscles and relay sensory information. People with Charcot-Marie-Tooth disease may find themselves with an awkward way of walking, highly arched or very flat feet and numbness in the feet, arms, and hands.
Paediatric neurologists and allied health clinicians worked together to develop guidelines for this disorder to promote standardised care for children with Charcot-Marie-Tooth disease globally.
The guidelines were published in the Journal of Neurology, Neurosurgery and Psychiatry.
Tackling the absence of guidelines
Murdoch Children’s Research Institute (MCRI) research associate Dr Eppie Yiu and University of Sydney Professor Joshua Burns led an international committee to produce the guidelines in order to address the management of common clinical problems. More specifically, tackling the side effects of Charcot-Marie-Tooth disease and the related neuropathies, including weakness, numbness and pain from nerve damage and advocating for improved access to multidisciplinary care.
These guidelines will promote a standardised approach to therapies and strategies to manage symptoms of Charcot-Marie-Tooth disease.
This condition is the most common inherited nerve disorder; despite this, no clinical guidelines have existed to help patients manage their condition until now. To tackle this concern, Dr Yiu, Professor Burns and their team formed the Paediatric CMT Best Practice Guidelines Consortium, involving clinicians from Australia, Belgium, Canada, Croatia, the US, Czech Republic, Italy and the United Kingdom.
“The aim was to develop evidence and consensus-based recommendations for the clinical management of children and adolescents with CMT,” Dr Yiu said.
Dr Yiu said the guidelines would promote optimal, standardised care for children with Charcot-Marie-Tooth disease globally, improve access to multidisciplinary care, such as via the National Disability Insurance Scheme (NDIS), and were critical for clinical trial readiness.
Charcot-Marie-Tooth disease guidelines
To develop the guidelines, the international panel of clinicians conducted a series of systematic reviews covering ten clinical questions and evaluated the body of literature on Charcot-Marie-Tooth disease management. The panel then formulated recommendations based on these reviews.
The guidelines consist of 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 Charcot-Marie-Tooth disease.
Medical and health clinicians can utilise these new guidelines to provide improved care for children with Charcot-Marie-Tooth disease, including neurologists, rehabilitation specialists, physiotherapists, occupational therapists, clinical nurse specialists and genetic counsellors.
