World-first guidelines developed for children with Charcot-Marie-Tooth disease

By Dr Emily Lathlean MB BS, FRACGP
A group of international experts has developed the first-­ever guidelines for the management of children with Charcot-­Marie­-Tooth disease (CMT).

The group, led by Dr Eppie Yiu, a Paediatric Neurologist at the Royal Children’s Hospital in Melbourne, and Professor Joshua Burns, Head of School and Dean of The University of Sydney School of Health Sciences, formed the Paediatric CMT Best Practice Guidelines Consortium in 2015, comprising paediatric and adult neurologists, rehabilitation specialists and allied health clinicians from Australia, Belgium, Canada, Croatia, the USA, Italy, the UK and the Czech Republic. In their article, published in Journal of Neurology and Neurosurgery and Psychology, the group explained their goal was to provide evidence-based guidance for the management of children with CMT and, where evidence was lacking, obtain consensus for management.

CMT is the most common chronic peripheral neuropathy of childhood, affecting about 1 in 2500 individuals. There are currently no proven disease-modifying treatments for children and management usually involves accurate diagnosis, symptomatic care, rehabilitative approaches and surveillance of anticipated complications.

‘Symptoms of CMT often begin in childhood and slowly progress over time. These symptoms include gait impairment, weakness, joint deformity, pain and sensory abnormalities, which impact quality of life,’ Dr Yiu told Medicine Today. ‘Children with CMT are ideally managed by a multidisciplinary team. Referral to a local paediatric neuromuscular service is recommended, if available.’

The guidelines consortium developed 10 clinical management questions related to common symptoms and functional limitations experienced by children with CMT. Using a GRADE (Grades of Recommendation, Assessment, Development, and Evaluation) approach and a modified Delphi survey, the consortium developed three evidence­ based and 31 consensus-­based recommendations.

The published recommendations encompass the management of muscle weakness, balance and mobility impairment, sensory symptoms, muscle cramps, impaired upper limb function, respiratory impairment, maintenance of joint range of motion and nonsurgical management of joint deformity. The draft underwent consultation and feedback was also sought from national and international consumer CMT organisations.

Dr Yiu said the guidelines were critical for clinical trial readiness and would promote optimal, standardised care for children with CMT globally, including improving access to multidisciplinary care, such as via the National Disability Insurance Scheme.
J Neurol Neurosurg Psychiatr 2022; doi: 10.1136/jnnp-2021-328483.