Motor neurone disease (MND) is a condition that affect motor neurons, which are nerve cells that control voluntary movement. These nerve cells carry signals from the brain, down the spinal cord, to the muscles. In MND these nerve cells begin to gradually die (degenerate). Without incoming messages from the brain, muscles become weak and it can be hard to control them. Over time, as more motor neurons die, the muscles waste away (degrade) and become paralysed. MND can affect many different types of muscles, including those which control moving, breathing, swallowing and speaking. The condition worsens over time (progressive) and is life-limiting. The average life expectancy after diagnosis is estimated to be 2-3 years but varies widely depending upon the type of MND.^1,2,4,5

There are two types of motor neurons:

• Upper motor neurons (UMN): start in the brain and send signals down to the spinal cord.
• Lower motor neurons (LMN): start in the spinal cord and carry signals out to the muscles, causing them to move as desired.

MND is often grouped into four main types, based on which parts of the body are affected and how quickly the disease progresses (worsens). These are not completely different diseases, but different forms of MND:^1,4

• amyotrophic lateral sclerosis (ALS) [ORPHA: 803; ICD-11: 8B60.0]
• progressive bulbar palsy (PBP) [ICD-11: 8B60.1]
• Lower motor neurone-predominant ALS (previously progressive muscular atrophy/ PMA) [ORPHA: 454706; ICD-11: 8B60.3]
• primary lateral sclerosis (PLS) [ORPHA: 35689; ICD-11: 8B60.4]

MND can also occur at the same time as frontotemporal dementia:

• motor neurone disease with frontal-temporal-dementia (MND-FTD) [ORPHA:275872; ICD-11: 8B60.5]

There are also other diseases which affect the neurons, such as Kennedy’s disease but these are not covered on this page as they are separate conditions from MND.⁶

Synonyms:^1,3,4 Motor neuron disease, amyotrophic lateral sclerosis (ALS), MND with frontotemporal dementia (MND-FTD), progressive bulbar palsy (PBP), Progressive muscular atrophy (PMA), Primary lateral sclerosis (PLS), Progressive pseudobulbar palsy, Lou Gehrig’s disease.

In Australia and the United Kingdom, amyotrophic lateral sclerosis (ALS) refers to a specific type of MND.¹ In other countries, ALS is sometimes used as an umbrella term for all types of MND.

Universal rare disease classifications provide a common language for recording, reporting and monitoring diseases. Please visit the Rare Disease Classifications page for more information about these internationally recognised classifications.

ORPHA:98503 Motor Neuron Disease

ICD-11: 8B60 Motor neuron disease

The symptoms and disease progression vary between the different types of MND.^1,4,5 Early symptoms may be mild and can include stumbling when walking, dropping things more often, or slurred speech. For all types of MND, symptoms eventually progress to include paralysis of muscles required for moving, eating and breathing. The muscles that control eye movements and urination usually remain unaffected. Some people may also notice becoming more emotional or having emotional outbursts that do not match their feelings (laughing and/or crying more often than usual or unexpectedly). Please refer to the specific type of MND for more information about their specific symptoms.

MND may also occur with frontal-temporal-dementia (FTD) – this condition is called MND-FTD. Individuals with MND-FTD often have symptoms of dementia before MND symptoms begin. ^{7, 8} FTD often involves changes in personality, lack of motivation, difficulty planning and reasoning, loss of empathy, and impulsive behaviours. Individuals with MND-FTD often have trouble understanding others and speaking.

Please speak to your medical team to learn more about the symptoms and complications of MND.

Rare diseases are often serious and progressive, exhibiting a high degree of symptom complexity, leading to significant disability. Majority of the estimated two million Australians living with a rare disease meet the Australian Government’s definition for disability (in accordance to the Australian Public Service Commission and Australian Bureau of Statistics), and many experience severe and permanent disability impacts. If you or someone you care for is experiencing disability-related impacts from a rare condition, please speak with a health or disability professional for advice. Information about relevant disability support can be found at the RARE Portal’s Disability Support Information page.

The exact cause of motor neuron death in MND is unknown in the majority of cases.^1,9,10

A small proportion of MND cases have a genetic cause, meaning they are caused by a genetic variant (gene change).^1,9,10 This is often called ‘familial MND’, as these genetic variants can be inherited. There are many different genes which can be affected to cause MND. In some families, the affected gene is known, whilst in other families, the affected gene is unknown. Not everyone with an inherited MND genetic variant develops MND, and those that do can have varying symptoms, age of disease onset and progression. A person can also have a genetic variant that causes MND without a known family history of MND.

It is also thought there may be other genetic factors as well as environmental factors that contribute to a person’s overall risk of developing MND.^1,9

If you would like to learn more about the inheritance and impact of MND, please ask your doctor for a referral to a genetic counsellor. Genetic counsellors are qualified allied health professionals who can provide information and support regarding genetic conditions and testing. More information about MND and genetic counselling can be found at:

• MND Australia: Familial MND and Genetic Testing
• Information on Genetic Services
• The National and State Services pages underneath the ‘Genetic Counselling’ sections listed

There is no single diagnostic test for MND. Diagnosis of MND may be based on a clinical examination, medical and family history, followed by electrophysiological tests, which test the function of nerve cells (neurons) and muscles. Other tests, such as MRI (brain scan) and blood tests are often also done to rule out other conditions with similar symptoms.^{1, 4, 5, 11}

Electrophysiological tests often include:

• Nerve conduction studies that measure the speed of electrical signals in neurons between one electrode to the next.
• Electromyography (EMG) read the electrical signals generated by the muscle cells after stimulation by nerve cells

As an individual’s symptoms develop over time, doctors and individuals may get a better understanding about the range of symptoms and rate of disease progression, which can sometimes lead to modification of the type of MND diagnosed.¹

As part of the diagnosis process, doctors may rule out other conditions that have similar symptoms (differential diagnosis), such as other neurological (involving nerve cells) conditions, including spinal muscular atrophies (including Kennedy’s disease and Hirayama disease), multifocal motor neuropathy, and cervical spondylotic myelopathy.

For more information about specific tests involved in MND diagnosis, see:

• John Hopkins Medicine: Electromyography (EMG)
• John Hopkins Medicine: Nerve Conduction Studies

Please speak to your medical team to learn more about the available pathways for diagnosis of MND.

There is currently no curative treatment for any type of MND, which are all life limiting conditions. Treatment of MND is aimed at slowing progression of some types of MND where possible, managing symptoms and improving quality of life.

There are two subsidised treatments available in Australia which may moderately slow progression of ALS or PBP if treatment is begun early in the disease progression (soon after symptoms start).¹² These medications may not be suitable for all individuals with either ALS or PBP. These treatments do not improve outcomes for individuals with other types of MND.

Strategies to manage MND symptoms may include:

• pain management
• speech therapy and use of communication aids
• nutrition management and use of feeding tubes
• breathing exercises and supports, such as non-invasive ventilation (NIV) masks
• occupational therapy
• physiotherapy
• use of mobility aids and adaptive equipment

Please speak to your medical team to learn more about the possible treatment or management options for your condition. Treatment will depend on an individual’s specific condition and symptoms. It is also important to stay connected to your medical team so that you can be made aware of any upcoming clinical trial opportunities. For many rare diseases, treatment options may be limited. Participation in a clinical trial may provide access to new or emerging therapies.

Healthcare professionals involved in the treatment of MND may include general practitioners (GP), registered nurses, neurologists, physiotherapists, occupational therapists, psychologists, dieticians, speech pathologists, social workers, a palliative care team, a support coordinator, respiratory specialists, and orthotists.^{1, 4} The need for different healthcare professionals may change over a person’s lifetime and extend beyond those listed here.

Clinical care for rare diseases often involves a multidisciplinary team of medical, care and support professionals. Please note that the information provided here is as a guide and that RVA does not necessarily monitor or endorse specific clinics or health experts.

This may not be applicable to all rare diseases but for many, palliative care services may be relevant and useful. Palliative care services are available for people (adults, children and their families) living with a life-limiting illness and is not only for end-of-life care. It can also help at any stage of illness from diagnosis onwards, and will look different for different people. Palliative care services provide assistance, support, resources and tools to help people manage their illness and the symptoms, ease pain, and improve comfort and quality of life. If this is relevant to you and you wish to find out more information about palliative care and how it can help you, please visit:

• Australian Institute of Health and Welfare: Palliative care Overview
• Australian Government Department of Health, Disability and Ageing: Palliative care
• Palliative Care Australia

Australian Clinical Care guidelines for MND are currently being developed; more information can be found at The Australian MND Guideline Development Project.

• A proposal for new diagnostic criteria for ALS

These recommendations were produced at a consensus meeting held on the Gold Coast in 2019. The meeting aimed to improve early diagnosis of MND. The meeting involved leading neurologists and neurophysiologists from 11 countries as well as MND Australia and patient and carer representatives from Australia.

The following guidance is available from international experts outside Australia; however, there may be information that is not relevant or applicable to the Australian context, and may not be up to date:

• Canadian best practice recommendations for the management of amyotrophic lateral sclerosis was developed and published in 2020 by a working group of 13 Canadian ALS clinicians.
• National Institute for Health and Care Excellence (UK) guideline: Motor neurone disease: assessment and management. published in 2016 and reviewed in 2024. This guideline was developed by a group of experts including neurology, respiratory, high-dependency, and palliative medical specialists, general practitioners, researchers and academics, nurses, and people with lived experience of MND.
• European Federation of Neurological Societies: guidelines on the Clinical Management of Amyotrophic Lateral Sclerosis (MALS) – revised report of an EFNS task force is aimed to provide evidence-based or expert recommendations for the diagnosis and management of ALS based on a literature search and the consensus of an expert panel; it was published in 2011.

Individuals living with rare diseases may have complex medical issues and disabilities, which are not always visible. It is often useful to refer to their medical history as well as personal information such as a medical card, doctor’s letter, or if available, a rare disease passport, for relevant information.

In addition, individuals, their parents, families and carers often develop extensive expertise on their specific rare disease. It is important to recognise that they can contribute valuable knowledge about their rare condition. Rare diseases often impact individuals differently, so it’s important to consider a person’s lived experience.

Motor Neurone Disease: First contact with a patient. Australasian College of Paramedicine is a fact sheet developed by MND Australia in collaboration with the Australasian College of Paramedicine to support people with MND when paramedic care is required.

MND Australia: Planning for emergency care has resources to help people living with MND prepare for emergencies

The MND Research Collective is a concept co-designed with around 50 experts from lived experience, medicine, healthcare, and research. It is the coming together of existing groups, organisations and stakeholders under a shared focus and vision and with a common agenda. It aims to encourage and facilitate a collective approach that enables better outcomes for people living with MND.

Registry

MiNDAUS Registry is an Australian motor neurone disease registry which was initially established in 2021 by the MiNDAUS Partnership (formed in 2019 by a group of prominent MND researchers, MND clinics, neurologists and people with lived experience, through an Australian Government NHMRC grant). The registry is now operated by MND Australia. The MiNDAUS Registry collects health information during MND Clinic visits as well as optional information people may choose to provide. Joining the MiNDAUS Registry also creates a personal MND health record, which people living with MND or their carer can edit, change or share at any time. MiNDUAUS data can also determine if people are suitable for a clinical trial and potentially link them to approved research. More information about the MiNDAUS registry can be found at:

• MiNDAUS Registry
• MND Australia: MiNDAus Registry

Australian Organisations:
MND Australia
Website: https://www.mndaustralia.org.au/
MND Australia is Australia’s national peak body for MND care, advocacy and research. They offer support for people affected by MND across Australia through their national network of state MND Associations. Information about the available state services can be found at MND Australia: State Motor Neurone Disease Associations.

MND and Me foundation (Queensland)
Website: https://www.mndandme.com.au/
MND and Me Foundation is a Queensland based that offers support services, programs and equipment, as well as financial grants. They also fund MND research.

Fight MND
Website:https://fightmnd.org.au/
FightMND works to raise awareness and fund vital research to improve the quality of life and find treatments and, one day, a cure for those living with MND.

Racing for MNDi
Website: https://www.racingformndi.com.au/
Racing for MNDi exclusively funds genetic based research to accelerate game-changing treatments for all forms of MND.

Please note that RVA does not monitor or endorse each group/organisation’s operational governance and activities. When engaging with a group, please consider the information on the RARE Portal’s Finding Helpful Peer and Community Supports page.

MND vary between individuals, and each person’s experience is unique.

National MND Lived Experience Network was launched by MND Australia in 2024 as a new way to connect people with lived experience of MND with organisations and other groups who are seeking their input.

If you would like to share your personal story with RVA, please visit the Rare Voices Australia: Share Your Story page. RVA will consider your story for publishing on our website and inclusion on the RARE Portal.

The following services and resources are available for people living with MND:

• MND Australia: MND Connect lists resources, information and support services for people with MND, which includes:
  • – lists support services available in Australia and how to access them
  • Information resources include fact sheets, tools for carers, and tools to assist with decision making and communication. They also have information for Aboriginal and Torres Strait Islander communities, young people, and healthcare professionals.
  • Living well with MND has resources to help people to navigate living with MND
• MND and me foundation: Resources include fact sheets, videos, and guidance on finding support.
• Victoria State Government’s Better Health Channel has the following resources:
  • Motor neurone disease (MND) – help with daily activities
  • Motor neurone disease (MND) – independence at home
  • Motor neurone disease (MND) – personal care
  • Motor neurone disease (MND) – recreation and leisure

For information on available government and social services that provide support for individuals with a rare disease, please visit the National and State Services pages.

People living with a rare disease often face unique challenges such as diagnostic delays, misdiagnoses, limited treatment options, and limited access to rare disease specialists and support. These challenges may impact people’s emotional wellbeing and quality of life. Many find it helpful to seek mental health and wellbeing support to cope with ongoing stress and uncertainty. Connecting with people who have shared experiences through a support group may also be helpful. Information about relevant mental health and wellbeing support can be found at:

• Mental Health and Wellbeing Support for Australians Living with a Rare Disease
• The National and State Services pages underneath the ‘Mental Health’ sections listed

MND Australia has information for people living with MND about caring for mental health.

Psychological wellbeing and care for people living with Motor Neurone Disease (MND) from the Australian Psychological society contains a summary of different therapies that may improve mental health outcomes for individuals with MND

Further information on MND can be found at:

• healthdirect: Motor neurone disease (MND)
• MND Australia: MND Connect
• MND and me foundation: resources
• Genetic and Rare Diseases (GARD) Information Center: Amyotrophic lateral sclerosis
• National Organization for Rare Disorders (NORD): Amyotrophic Lateral Sclerosis
• National Institute of Neurological Disorders and Stroke (USA): Motor Neuron Diseases
• Dementia Australia: Frontotemporal dementia

MND Australia: Information for Health Professionals and Service Providers

MND Australia: Resources for Health Professionals

Australian MND Guidelines (currently under development)

Identification and outcomes of clinical phenotypes in amyotrophic lateral sclerosis/motor neuron disease: Australian National Motor Neuron Disease observational cohort

MND Hub online learning courses

Clinical practice guidelines for communicating prognosis and end-of-life issues with adults in the advanced stages of a life-limiting illness, and their caregivers.

GeneReviews®: Amyotrophic Lateral Sclerosis Overview

Orphanet: Amyotrophic Lateral Sclerosis

Human Phenotype Ontology (HPO): Amyotrophic Lateral Sclerosis

Motor neurine disease association: For acute, urgent and emergency care staff

This page has been co-developed by Rare Voices Australia (RVA)’s RARE Portal team in consultation with MND Australia.

If you are aware of any additional information that may benefit stakeholders with an interest in this page, or if you notice any broken links or inaccurate information, please let us know via the Contribute page.