Lexi Webster
Motor neurone disease (MND) is a neurodegenerative condition that affects the nerve cells that control the muscles, causing weakness and eventually paralysis. MND is uncommon but not rare in Australia, with recent statistics estimating that over 2,000 people in the country are currently diagnosed with the disease. Every day, two Australians are diagnosed with MND, and two people die from it. The average age of onset is 50, and survival is approximately 2-5 years from the onset of symptoms. While there is currently no cure for MND, treatments are available to reduce symptoms and improve quality of life.
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What You'll Learn
MND diagnosis and prevalence in Australia
Motor Neurone Disease (MND) is a neurodegenerative disease that affects the nerves that communicate between the brain and muscles, causing muscular weakness and wasting. The early symptoms of MND are mild and include muscle wasting, muscle weakness, muscle twitching, difficulty swallowing, and speech problems. The disease is slowly progressive, and the average age of onset is 50. MND is uncommon but not rare, and it affects people from all countries and ethnicities.
In Australia, it is estimated that around 2,752 people are living with MND at any given time, with approximately 2 new cases being diagnosed each day. The lifetime risk of developing MND in Australia is about 1 in 300 by the age of 85, and the risk increases with age. Slightly more men than women are diagnosed with MND, and about half of those diagnosed are under the age of 60.
The prevalence of MND in South Australia was found to be higher than the global estimates in a study conducted between 2017 and 2019. The estimated prevalence was 6.79 per 100,000 persons, while the global prevalence estimate is 4.5 per 100,000 persons. The study identified 256 MND patients in South Australia during this period, with 114 alive on December 31, 2019.
Currently, there is no cure or prevention for MND, but there are treatments available to reduce symptoms and improve quality of life. These include neuroprotective therapies such as riluzole and edaravone, which have been shown to extend survival rates by a few months. Coordinated multidisciplinary care and timely access to interventions are also important in managing the disease. MND Australia and other organizations provide resources, information, and support for people living with MND and their caregivers, as well as advocate for improved care and research towards finding a cure.
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MND symptoms and treatment options
Motor neurone disease (MND) is a rare condition that progressively damages parts of the nervous system. It affects the nerves that communicate between the brain and muscles, causing muscle weakness that worsens over a few months or years. MND can affect a person's mobility, speech, and ability to breathe and swallow. While there is currently no cure for MND, treatments are available to help manage symptoms and improve quality of life.
Symptoms of MND include muscle weakness, twitches, spasms, and cramps. Some people may experience muscle stiffness, also known as spasticity, and have difficulty with mobility tasks such as climbing stairs or lifting and moving their feet. Speech and swallowing difficulties are also common in people with MND, and some may experience drooling of saliva. These symptoms can vary widely between individuals with MND, and different types of MND present unique symptoms. For example, some types like PLS or Kennedy's disease are usually not fatal and progress slowly, while others like the severe form of SMA and ALS are fatal.
After receiving a diagnosis of MND, individuals should be provided with contact details for an MND care specialist. This specialist has experience caring for people with MND and can provide support for the individual and their family throughout the illness. A care team for MND typically includes a specialist nurse, a brain and nerve specialist (neurologist), a physiotherapist, and an occupational therapist. This team will work together to provide coordinated multidisciplinary care and timely access to interventions to manage symptoms.
Treatment options for MND aim to relieve symptoms and improve quality of life. Physiotherapy and medication can help with muscle cramps and stiffness. Speech and language therapy can benefit those with speech difficulties, and non-invasive mechanical ventilation (NIV) can support breathing. In addition, medication such as riluzole can slow down the progression of ALS, and edaravone has been shown to provide a limited improvement in survival for a small subset of people with ALS/MND. However, edaravone has not been approved by the Therapeutics Goods Administration (TGA) in Australia.
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MND research and drug development
In Australia, around 2,752 people are thought to be living with MND at any one time, with two people diagnosed and two people dying from the disease each day. Currently, only two neuroprotective therapies are available, neither of which can reverse the disease's progression. However, several organisations and universities are actively researching MND and developing new treatments.
MND Australia
MND Australia provides resources, information, and service linkage for people living with MND, their carers and families, and health professionals. They also have a research grants program that supports high-quality MND research to discover the causes, improve care, and find treatments and a cure for MND. The MiNDAus Partnership, led by MND Australia, works to improve the standard and coordination of care for people living with MND and enhance the prospects of discovering a cure or treatment.
Macquarie University
The MND Research Centre at Macquarie University works closely with the multidisciplinary MND service and clinic and the Neurodegenerative Disease Biobank. Their research focuses on discovering the cellular processes that cause MND to identify new drugs that can slow or stop the disease's progression. Led by Professor Julie Atkin, the cellular biology and therapeutics team has spent the last decade researching the cellular details of MND and testing new drugs. They have made significant discoveries, such as the role of the TDP-43 protein in repairing DNA and the function of the C9orf72 protein in cellular transport and damage removal. The team has also identified and catalogued gene variations that put people at risk of developing sporadic MND and is working to understand the genetic connections that link MND patients to their extended families and distant relatives worldwide.
Professor Roger Chung and the neurochemistry and molecular therapeutics team are developing a new gene therapy for MND. Their research has received significant financial backing, allowing them to transition their therapies from the laboratory to the clinical setting.
The University of Queensland
A spin-out company from The University of Queensland, NuNerve, has developed a potential new treatment for MND called NUN-004. The drug candidate has proven to be safe and effective in a Phase 1 human clinical trial, showing potential in slowing disease progression and improving motor movement. This research is supported by Fight MND, the Queensland Government, and the BioPharmaceuticals Australia Development Fund.
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MND support and resources
Around 2,752 Australians are thought to be living with Motor Neurone Disease (MND) at any one time, with two people diagnosed and two dying from the disease in Australia every day. MND Australia is the national peak body supporting people impacted by MND, and it provides a range of resources, information, and service linkages for people living with MND, their carers and families, and health professionals.
MND Australia's website has a guide explaining MND for Aboriginal and Torres Strait Islander people, and Gwandalan offers palliative care for Aboriginal and Torres Strait Islander people. The MND Association in each state or territory provides individualised support with an MND advisor who can help navigate any questions or concerns. MND clinics or services are available across Australia, offering multidisciplinary care for people living with MND.
MND Australia's research grants program supports high-quality MND research to discover the causes, improve care, and find treatments and, ultimately, a cure for MND. The MiNDAus Partnership improves the standard and coordination of care for people living with MND in Australia and enhances the prospects of discovering a cure or treatment. MND Australia also has an MND Decision Support Tool to help people discuss their choices with their doctor or genetic counsellor.
There are currently over 80 ALS/MND clinical trials being conducted worldwide, with information on those being conducted in Australia available on the Clinical Trial page of the Australian New Zealand Clinical Trials Registry website. The Special Access Scheme (SAS) is a program that provides for the import and/or supply of an unapproved therapeutic good for a single patient on a case-by-case basis.
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MND risk factors and causes
Motor neurone disease (MND) is a rare condition that progressively damages parts of the nervous system. It affects the nerves that communicate between the brain and muscles, causing muscle weakness and deterioration. While the exact cause of MND is unknown, it is believed to be influenced by a combination of genetic and environmental factors.
Genetics play a significant role in MND, with about 20% of cases linked to genetic causes. Half of the genetic cases occur in individuals with a family history of MND, while the other half have no known family history. Having a family member with frontotemporal dementia also increases the risk of inheriting MND. Genetic testing and counselling are available for those concerned about their family history. Additionally, certain genetic mutations, such as mutations in the TARDBP gene, have been implicated in causing MND by disrupting the normal functioning of motor neurons.
Environmental factors have also been suggested to contribute to the development of MND. For example, the National Institute of Neurological Diseases and Stroke notes that exposure to certain toxins may increase the risk of MND, particularly in veterans who have a higher chance of developing the disease. Abnormal clumps of proteins called aggregates are found in almost all cases of MND and are believed to interfere with the normal functioning of motor neurons. These aggregates may be a marker of cellular stress and can contain the protein TDP-43, which is involved in processing the genetic instructions for cells.
Other potential risk factors for MND include age and gender. The risk of developing MND increases with age, and it is more commonly diagnosed in individuals over 50. However, it is important to note that around half of those diagnosed with MND are under 60. MND is also slightly more prevalent in men than in women.
While there is currently no cure for MND, treatments such as medications, supportive devices, and physical therapy can help manage symptoms and improve quality of life.
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Frequently asked questions
It is estimated that there are over 2,000 people in Australia living with Motor Neurone Disease (MND) at any given time.
Every day in Australia, two people are diagnosed with MND.
Every day, two people die from MND in Australia.
The lifetime risk of MND for Australians is about 1 in 300 by the age of 85.
Motor Neurone Disease (MND) is a neurodegenerative disease that affects the nerves that communicate between the brain and muscles. It causes increasing muscular weakness and disability, often without mental impairment or incontinence.
