Research by The Royal Victorian Eye and Ear Hospital’s Complex Balance Disorders and Ataxia Service and the Bionics Institute is helping patients with complex balance disorders, both in Victoria and remote Aboriginal communities, receive better support and management for their conditions.
Associate Professor David Szmulewicz, a Neurologist and Neuro-otologist, is the founding head of the hospital’s Complex Balance Disorders and Ataxia Service (COMBDAS). COMBDAS is the only clinic of its kind in Australia and is highly sought after for training and attracting medical fellows and observers from around the world. It is also one of the few clinics outside the United States to receive international recognition as an Ataxia Centre of Excellence by the National Ataxia Foundation.
The clinic is staffed by subspecialist clinicians with expertise in diagnosing, managing, and researching complex balance disorders. Patients with various conditions affecting the balance system, particularly those involving multiple components like the brain and inner ear, are treated here.
“We established COMBDAS to cater specifically to people with complex balance and coordination diseases,” explained Assoc. Prof David Szmulewicz.
“We want our patients to be in the best possible position to be offered treatment opportunities.”
COMBDAS focuses heavily on research, which in turn has resulted in the discovery of new diseases, genes which cause complex balance disorders, and led to the development of guidelines for diagnosis and management of such conditions.
One piece of research, completed in association with the Bionics Institute, resulted in the development of the Ataxia Instrumented Measurement System. The system supports patients who suffer from hereditary neurodegenerative conditions, in a family of diseases called Cerebellar Ataxias.
The measurement tools used are a spoon, cup and pendant. These help assess a patient’s movement, balance, walking, and eye motion in a way that relates to daily tasks. These devices act as data loggers, using an algorithm to classify movements and measure severity. Tests can be conducted remotely, with real-time results sent to clinicians or researchers in a user-friendly score format, and the technology has also been applied internationally.
As well as treating patients at the Eye and Ear, this technology is being used by Assoc. Prof Szmulewicz, who also works with the Northern Territory-based MJD Foundation to provide earlier diagnosis, health equity and research for Indigenous Australians, who have by far the highest rate of Machado-Joseph Disease (MJD) in the world.
MJD is an inherited disease in the family of diseases called Spinocerebellar Ataxias (SCAs), and is also known as SCA3. As a dominantly inherited disease, each child of a person carrying the defective gene has a 50% chance of inheriting it. The first cases in remote Aboriginal communities were identified in the 1990s although it was likely present 20 years earlier.
“About two and half years ago I started working with the foundation. We have set up ataxia clinics which are travelling multi-disciplinary productions. I and other doctors from the hospital travel up north, often by small plane and four-wheel drives, and join foundation staff, including allied health clinicians, and together we run clinics and gather research,” Assoc Prof. Szmulewicz said.
Libby Massey, MJD Foundation’s Director of Research, Clinical Services and Education, said MJD is a ‘diabolical’ disease faced by people living in remote areas without ready access to services.
“So far, we have been dealing with the tip of the iceberg, the great grandparents, grandparents and parents, but there are many more who will be affected,” Libby says.
Prior to Assoc Prof. Szmulewicz’s program less than 10 per cent of patients would have seen a neurologist. Now more than 90 per cent of symptomatic patients have been seen.
“They come to the clinics because they feel supported in their community,” she said.
Assoc. Prof Szmulewicz is proud of the Eye and Ear’s COMBDAS clinic’s dedication to being at the forefront of research, ensuring our patients have access to potential breakthrough treatments that can change the way others treat complex balance disorders.
“We present our work at international conferences and it’s evident that using the research developed through our COMBDAS clinic has been incredibly beneficial to providing support to the wider complex balance disorder community,” he said.
“We have a wonderful and dedicated team of doctors, allied health and support staff, as well as wonderful patients who trust our services and participate in research to help others.”
We are grateful to Gandel Foundation and The Mary Curry Memorial Fund for CANVAS Research who generously support the hospital’s research and treatment of balance disorders.
To learn more about the Eye and Ear’s research, read the 2023-24 edition of Innovate.
