Neuropathy Research Group

Delivering life changing discoveries through neuropathy research
We bring together clinician-researchers, scientists and families to improve the lives of people living with Charcot-Marie-Tooth (CMT) disease.

About us

The Neuropathy Research Group (NRG) at The University of Sydney and The Children’s Hospital at Westmead is a member of the Inherited Neuropathy Consortium, a consortium supported by the premier USA funding agency, National Institutes of Health (NIH).

Our focus is improving the lives of children and adults living with Charcot-Marie-Tooth disease (CMT).

What is Charcot-Marie-Tooth  (CMT) disease?

CMT is a common genetic disorder affecting the motor and sensory nerves. Symptoms first occur in childhood, and nerve degeneration results in weakness of the hands and feet and loss of sensation. CMT is an inherited condition and multiple generations of the same family may be affected.

The most disabling impairments of CMT are the significant impact on activities of daily living including walking and balance difficulties resulting in trips and falls, hand weakness causing difficulties with handwriting, tiredness and fatigue, all resulting in poor quality of life.

CMT is a progressive disease and there is currently no cure. A number of promising compounds have been identified and human trials are either underway or slated to begin.

Research by our clinician-researchers and scientists aims to improve the lives of children with CMT by developing and validating clinical outcome measures that measure the disability caused by CMT, testing rehabilitative interventions such as exercise and orthoses, and identifying novel genetic causes of CMT and disease-modifying therapies.

Peripheral Neuropathy Management Clinic (PNMC)

At The Children’s Hospital at Westmead, children with CMT are evaluated at the Peripheral Neuropathy Management Clinic (PNMC). This clinic which includes neurologists, allied health professionals, orthopaedic surgeons, rehabilitation paediatricians and research staff who are experts in CMT.

The PNMC has been identified as an international centre of excellence by the Charcot-Marie-Tooth Association of USA and partners closely with Charcot-Marie-Tooth Australia.