First effective treatment for children with Charcot-Marie-Tooth disease

There is new hope for children with incurable genetic disease, Charlot-Marie-Tooth disease (CMT), with a new study finding the first effective treatment - exercise.

Led by Professor Joshua Burns, Director of the Paediatric Gait Analysis Service at The Children’s Hospital at Westmead and Professor at the University of Sydney, the world-first study found that progressive resistance exercise could help to significantly reduce the muscle weakness experienced by patients with CMT.

Affecting approximately 15,000 Australians, the CMT causes a myriad of motor and sensory impairments, with the most debilitating impairment occurring in the feet and ankles. Often, the weaknesses will cause painful foot deformities, lifelong difficulty performing everyday tasks and injuries resulting from trips and falls but it is hoped exercise can now be used to help minimise these problems.

The results of the randomised trial performed across Sydney Children's Hospitals Network, University of Sydney and University of NSW, showed that showed that six months of moderate-intensity progressive resistance exercise could help not only slow the progression of muscle weakness by up to 30% compared to CMT patients who did not exercise, but also strengthened their muscles over a two-year period.

The study was published in The Lancet Child & Adolescent Health this month and presented at the 2017 Peripheral Nerve Society Annual Meeting, Sitges-Barcelona, Spain on 10 July.

The next step is to develop a translation strategy to directly impact clinical practice and improve health outcomes for patients with CMT locally, nationally and internationally.