More than 2,000 children and their families affected by a range of inherited muscle, nerve and brain disorders are provided specialised multidisciplinary care through the Neuromuscular and Neurogenetics Clinical service. A range of conditions are managed through the Clinic and most of these disorders are associated with significant physical weakness or muscle dysfunction, which limits mobility and many activities of daily living. Some of these conditions are life limiting.

The Neuromuscular and Neurogenetics Clinical service is overseen by A/Prof Kristi Jones, and staffed jointly by Neurology and Genetics clinicians, with major input from a range of allied health professionals including physiotherapists, occupational therapists, social workers and psychologists specialising in learning and childhood development. Where possible, the primary care of patients is retained by their referring paediatrician and local services, with the clinic providing expert overview and coordination of care.

The Clinical Trials Unit undertakes clinical research and conducts clinical trials across a range of neuromuscular and neurogenetic disorders. Research and trials range from natural history studies, where the progression of a disease or condition is tracked over time, to multi-site pharmaceutical trials testing the safety and efficacy of drugs designed to treat the cause or symptoms of disease.

The Clinical Service, Research and Clinical Trials teams at Kids Neuroscience Centre work together, providing a unique approach to the care and treatment of children with neurogenetic and neuromuscular disorders that combines best practice clinical care, genetic diagnosis and access to cutting edge clinical trials, all informed by the latest research.