Solving the mystery of a Motor Neuron Disease mimic

The funding will enable the University’s Brain and Mind Centre (BMC) to improve and accelerate diagnosis of Inclusion Body Myositis. The Centre’s Neurology Lab, with more than 2000 muscle biopsies collected over 40 years, one of the largest collections of such material in the world, will be essential to its approach.

“We want to spare other people the distress of misdiagnosis and incorrect treatment,” said Mr Rouse who has Inclusion Body Myositis and was originally misdiagnosed with Motor Neuron Disease.

"It took eighteen months for me to receive an accurate diagnosis. From the day I was diagnosed with this four years ago, nobody seemed to know anything about it. Even medical specialists have usually never heard of it." 

Inclusion Body Myositis (IBM) is a rare muscular disorder characterised by inflammation, wasting and weakness in the muscles. Occurring only in adults it is the most common acquired muscle-wasting disease in people over 45.

The symptoms include progressive disability with the loss of function in the legs, arms and fingers.  Risk of serious injury from falls is increased for those who are still mobile.  Some people have progressive difficulty swallowing.  The cause is not known, diagnosis is difficult and there is currently no treatment. An estimated 1200 Australians are believed to have IBM.

“It is often difficult to distinguish inclusion body myositis from motor neuron disease. Muscle biopsy, a painful and invasive procedure where tissue and cells are removed, is currently the only way to make an accurate diagnosis,” said Professor Simon Hawke from the University’s Brain and Mind Centre.

“Generous donations such as the Rouses’ make exploration of a rare disease possible – to the benefit not just of the people with his condition but to the wider community. Our discoveries will shed light on the disease mechanism of other diseases causing muscle weakness, such as motor neurone disease,” said the University’s Vice-Chancellor and Principal Dr Michael Spence.  

Research is the next critical step towards improving patient diagnosis and outcomes. This will be enabled by the establishment of The Rouse Initiative in Inclusion Body Myositis Research.

“IBM involves the body’s immune system attacking itself. The cause is believed to be a combination of genetic and environmental factors,” said Professor Simon Hawke from the Brain and Mind Centre.

One theory in need of further exploration is that inclusion body myositis is caused by the age-related accumulation of toxic elements within the muscles, causing an inflammatory response followed by muscle degeneration.

Using the Neurology Lab, a collaboration between the Brain and Mind Centre, Royal Prince Alfred Hospital and the Centre’s extensive global network of clinical and research partnerships and collaborations, the program aims to:

• analyse which proteins are expressed and genes are present and active during the progression of the disease using previously collected samples and active patients
• use highly sensitive techniques to analyse toxic elements within individual muscle cells and neurons in IBM and motor neuron disease patients and in unaffected humans to better understand IBM pathology
• develop biomarkers of the disease to allow rapid, definitive diagnosis. That could lead to developments such as a diagnostic blood test and an algorithm to enable directed therapy for individual patients.

“The Brain and Mind Centre will develop the Neurology Lab’s biobank for inclusion body myositis and related inflammatory neuromuscular conditions. We collect up to 1,200 human muscle biopsy samples annually, providing a unique opportunity to study the muscle properties of IBM patients,” said Professor Hawke.

Understanding how the disease progresses at a molecular level will give researchers insight into improving diagnosis and creating more effective treatments.