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Motor neurone disease

Motor neurone disease (MND), sometimes referred to as amyotrophic lateral sclerosis (ALS) , is the name given to a group of progressive neurological conditions where specific nerve cells, or neurons, don't work normally.

This leads to increasing physical disability, as muscles are unable to receivee messages from the neurons to move or activate. Without these signals, muscle weakness, wasting and paralysis develop.

MND usually develops quickly once symptoms begin, with an average life expectancy of 2-3 years from diagnosis. It can affect anyone, at any age, but usually develops in people over the age of 40.

Early symptoms may be mild and include:

  • Stumbling due to weakness of the leg muscles
  • Difficulty holding objects caused by weakness of the hand muscles
  • Slurring of speech or swallowing difficulties due to weakness of the tongue and throat muscles
  • Cramps and muscle twitching.

As the disease progresses symptoms may include:

  • Reduced mobility and independence due to muscle weakness and paralysis
  • Impaired speaking and communication
  • Breathing difficulties from reduced lung capacity caused by muscle weakness
  • Fatigue caused by muscle exhaustion, decreased lung capacity, metabolic changes, weight loss and reduced food intake
  • Insomnia caused by discomfort, pain from stiff joints and muscles, excessive saliva, dry mouth or breathing problems
  • Changes in cognitive skills and processes and/or behavioural change in 50% of MND cases
  • Frontotemporal dementia which occurs in 15% of MND cases
  • Excessive laughing or crying due to emotional lability and cognitive change

List of symptoms by MND Australia

  • Each day in Australia two people are diagnosed with MND, and two people die

  • Average life expectancy is 2.5 years

  • More than 2,000 people have MND in Australia, of whom 60% are male and 40% are female

Causes and treatment

There is no known cause of MND. While genetics are thought to play a part in approximately 10% of cases, research continues to try and establish whether environmental, lifestyle and ageing factors could also play a part.

While there is no cure for MND, there are treatments that can improve symptoms, and help maintain quality of life. It is important for someone with a diagnosis of MND to work with a neurologist when deciding what the best treatment options may be.

The drug riluzole may increase survival by two to three months. Other forms of treatment may include gastrostomy, respiratory interventions, speech pathology, physiotherapy and occupational therapy. There are also a number of support services available through the government and support organisations to assist with performing day to day tasks, and assist carers.

How the Florey is making a difference

There has been steady progress in identifying genetic factors that cause or predispose people to MND. This has resulted in a large number of genetically engineered laboratory models to test new treatment approaches for MND.

The Florey has an outstanding program of research in MND using patient-derived stem cell based and animal models. Our research using cutting edge techniques spans key areas in MND, including protein folding, energy metabolism, support cells, immune cells, gene and stem cell therapy approaches.

In Associate Professor Brad Turner's laboratory, we have a strong focus on drug discovery,  high throughput drug screening and translational medicine with the ultimate goal to develop effective treatments and a cure for MND.

Our research has also been instrumental in progressing a copper-binding drug, CuATSM, into a Phase 1 clinical trial in conjunction with Neuroscience Trials Australia.

Clinical trials

There are a number of active and upcoming clinical trials for MND and details can be found at MND Australia and FightMND:

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