Flinders Medical Centre Foundation
Flinders Medical Centre Foundation

Multiple Sclerosis



Helping MS Sufferers Walk Easier

Genetic Discovery for Multiple Sclerosis

Helping MS Sufferers Walk Easier
First Published: Enews - September 2011


Flinders University researchers are trialling a new device which they hope will help people with Multiple Sclerosis (MS) move more easily.

MS affects the 'insulation' around the nerves that carry signals from the brain to the muscles.

Two major research projects being undertaken in the SA Movement Analysis Centre's Gait Laboratory - based at the Repatriation General Hospital and headed by Flinders' researchers - are looking at improving the mobility problems which develop as the disease progresses.

The first study is looking at whether a three-part electrical stimulation device strapped over the dorsiflexor muscle in the leg will help MS sufferers to walk, thus reducing walking-related fatigue.

'A foot switch is placed in the heel of the shoe, a controller is kept on a belt clip or in the pocket, and a stimulator is strapped to the leg under the knee with electrodes over the dorsiflexor muscle,' explained lead researcher and Flinders lecturer Chris Barr.

'When the patient is walking the foot switch tells the controller when the foot is off the ground and the controller turns on the stimulator, causing the dorsiflexor to contract lifting the foot upwards.

'When the foot contacts the ground again the switch in the show communicates with the controller and it turns the stimulator off so the dosiflexor relaxes lowering the foot down. This is very similar to the normal walking pattern.'

Chris said the research will determine if the device helps people with MS walk with a better pattern and with less effort, if their walking improves with prolonged use of the machine and if any 'training effort' is maintained when the person stops using the device.

'Because the device is stimulating muscles that aren't always in use, it's possible that there may be a training effect - the muscles might get stronger because they're getting used more,' Chris said.

The second study is investigating the effect of prolonged walking on balance, mobility and falls risk in people with MS.

'Fatigue is one of the greatest limitations to walking ability for people with MS, with lower limb weakness worsening with increased walking distances,' lead researcher and neurological physiotherapist James McLoughlin, a senior lecturer at Flinders University, said.

'What we're investigating is whether the correct combination of exercises and/or simple orthotics helps reduce the effects of fatigue on mobility while also reducing the risk of falls.

'By offering tailored programs in physiotherapy, orthosis prescription and medications we hope to significantly change the lives of people with MS.'

Genetic Discovery For Multiple Sclerosis
First Published: Investigator - June 2009


An Australasian multiple sclerosis (MS) study has discovered variations in two genes which could contribute to the development of the disease.


MS is an inflammatory disorder of the brain and spinal cord and affects almost 20,000 people in Australia. It is the most common cause of neurological disability in young people; however its cause is a mystery.


The research is one of the largest genetic studies in MS ever to be undertaken. It involved scanning the DNA of more than 5,000 people – 1,600 with MS and 3,400 without MS.


The study was conducted by The Australian and New Zealand Multiple Sclerosis genetics consortium (ANZGENE). ANZGENE is a collaboration of MS clinicians and scientists, supported by Multiple Sclerosis Research Australia and the Australian Research Council.


Dr Mark Slee, Neurologist from the Flinders Multiple Sclerosis Service and Department of Neurology, is part of the consortium. He said findings from the research provide a platform to target new therapies aimed at early treatment or disease prevention.


‘The chance of developing MS comes from environmental factors acting on a genetically susceptible person,’ he said.


The ANZGENE study, recently published in the prestigious scientific journal Nature Genetics, found that people with MS are more likely to have several genetic variants on Chromosome 12 and Chromosome 20 which are linked to immune function and contribute to the development of MS. Previous genetic studies in MS have implicated other immune related genes in MS susceptibility.


On Chromosome 12, one of the genetic variations contributing to MS risk was found to be involved in the metabolism in Vitamin D (the CYP27B1 gene). Other auto-immune diseases, such as Type 1 Diabetes are also associated with changes in the same gene.


‘The new gene variation associated with Vitamin D metabolism is very important,’ Dr Slee said. ‘This gene variation may provide a link between genetic risk and environmental factors which determine MS susceptibility.’


On Chromosome 20, a further MS susceptibility gene was found – the CD40 gene.


Variations in this gene are also associated with other autoimmune diseases such as Rheumatoid Arthritis and Graves’ disease. This gene is important in regulating activity in many parts of the immune system and how immune cells become activated to cause inflammation in the nervous system.


Researchers will now ‘fine map’ the newly discovered genes to gain a better understanding of their role in MS which could lead to the development of new therapies for treatment of the disease.

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