The Sydney Neuropathy Research group at INMR (SyNRG-CHW) comprises clinician-researchers and scientists aiming to improve the lives of children with Charcot-Marie-Tooth disease (CMT) by identifying validated scales to measure the disability caused by CMT, effective rehabilitative measures including exercise and orthoses, novel genetic causes of CMT, and disease-modifying therapies through clinical trials.
CMT, otherwise referred to as an inherited peripheral neuropathy, is a common genetic disorder of the motor and sensory nerves. Symptoms first occur in childhood, and nerve degeneration results in weakness of the muscles of the hands and feet and loss of sensation.
While there is currently no curative therapy for CMT, a number of promising compounds have been identified and human trials are either underway or slated to begin.
At The Children’s Hospital at Westmead, children with CMT are evaluated at the Peripheral Neuropathy Management Clinic (PNMC) which includes neurologists, allied health professionals, orthopaedic surgeons, rehabilitation paediatricians and research staff who are experts in CMT.
The CMT Paediatric Scale, developed by Prof Joshua Burns, is now the worldwide standard for measuring disease progression in the clinic and clinical trials in children with Charcot-Marie-Tooth disease.