Research by The Royal Victorian Eye and Ear Hospital’s Complex Balance Disorders and Ataxia Service plus the Bionics Institute is helping patients with complex balance disorders in Victoria and remote Aboriginal communities.
A new tool – the Ataxia Instrumented Measurement System – supports patients with hereditary neurodegenerative conditions in the cerebellar ataxia family of diseases, helping them receive better support and management.
Associate Professor David Szmulewicz, a neurologist and neuro-otologist at the Eye and Ear Hospital and a researcher at the Bionics Institute, led the research.
A spoon, cup and pendant help assess a patient’s movement, balance, walking, and eye motion in a way that relates to daily tasks. The 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.
A/Prof Szmulewicz 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 one of few clinics outside the US to receive international recognition as an Ataxia Centre of Excellence by the National Ataxia Foundation.
The COMBDAS 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 at the clinic.
“We established COMBDAS to cater specifically to people with complex balance and coordination diseases,” A/Prof Szmulewicz said. “We want our patients to be in the best possible position to be offered treatment opportunities.”
COMBDAS focuses on research which 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 conditions.
World’s highest rate of MJD in Indigenous Australians
As well as treating patients at the Eye and Ear, A/Prof Szmulewicz is using the new ataxia tool for his work with the Northern Territory-based MJD Foundation to provide earlier diagnosis, health equity and research for Indigenous Australians. He said Indigenous Australians have the world’s highest rate of Machado-Joseph Disease (MJD).
MJD is an inherited disease in the spinocerebellar ataxias family of diseases (SCAs), also known as SCA3. Spinocerebellar ataxias are debilitating neurological conditions that affect coordination, balance, vision, speech and swallow.
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,” A/Prof Szmulewicz said. “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.”
Ms Libby Massey, MJD Foundation’s director of research, clinical Services and education, said MJD was 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,” she said.
Before A/Prof. Szmulewicz’s program less than 10% of patients would have seen a neurologist. Now more than 90% of symptomatic patients have been seen.
“They come to the clinics because they feel supported in their community,” she said.
The COMBDAS clinic is at the forefront of research, ensuring patients have access to potential breakthrough treatments that can change the way others treat complex balance disorders, A/Prof. Szmulewicz said.
“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.”
The Gandel Foundation and The Mary Curry Memorial Fund for CANVAS Research support the hospital’s research and treatment of balance disorders.
A/Prof Szmulewicz, also recently received a Veski FAIR Fellowship. He will use the which funding to continue his work with Aboriginal communities in remote regions.The Fostering Achievement in Research (FAIR) Fellowship supports early and mid-career researchers who have narrowly missed out on national funding, with a focus on supporting a diverse and inclusive workforce.
