Neuromuscular conditions are a group of disorders that impact the muscles and its connecting nerves (the neuromuscular system).¹ The body sends messages (signals) from the brain to the muscles through the nervous system, which enables the muscles to move and function properly.^1,2 In neuromuscular conditions, there is breakdown in the signalling process, affecting muscle function and strength.

The breakdown of the signalling process can be due to nerves being damaged and not conveying signal to the muscles, or muscles being affected and unable to receive or respond to the signal from nerves.² There may be progressive loss of muscle strength and function, resulting in profound physical disability in some cases.³ There are also conditions where the nerves and muscles are not damaged, but the signal is unable to pass through the neuromuscular junction where the nerves and muscles meet.¹ Symptoms depend on the type of neuromuscular condition, and which nerves and muscles are affected.²

Below are some types of neuromuscular conditions:^1,2

• Myopathies – genetic conditions that affect muscles that control movement (skeletal muscles); includes muscular dystrophy where there is deterioration of muscle
• Motor neuron diseases – motor nerves (neurons) are affected, causing progressive muscle weakness
• Peripheral neuropathies – affect sensory and motor nerves in the outer (peripheral) part of the body and outside of the brain and spinal cord, such as in the hands, feet, arms and legs
• Neuromuscular junction diseases – conditions where the transmission of signal from nerve cells to muscles are blocked at the neuromuscular junction (where the nerves and muscles meet)

There are no known synonyms.

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.

Please refer to the individual neuromuscular conditions for their specific classifications.

Symptoms vary depending on the type of neuromuscular condition, and which nerves and muscles are affected.² Symptoms may include tiredness, muscle weakness or pain, spasms or cramps and stiffness.^1,2 Muscles that affect speaking, swallowing and breathing may be affected in some cases. For some types of neuromuscular conditions, there may be also loss of muscle mass (muscle wasting/atrophy).^1,2

Symptoms also vary between individuals – those with the same neuromuscular condition may experience different symptoms, age of onset and disease progression.

Information about symptoms of specific neuromuscular conditions can be found at The Loop – Your Neuromuscular Resource Hub.

Please speak to your medical team to learn more about the symptoms for a particular neuromuscular condition.

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.

Neuromuscular conditions may be genetic conditions (caused by disease-causing genetic changes in particular genes),  autoimmune disorders, metabolic or hormone disorders, or caused by viral infections, dietary deficiencies, certain drugs or poisons, or by unknown factors.² The cause depends on the type of neuromuscular condition.

Information about causes for specific neuromuscular conditions can be found at The Loop – Your Neuromuscular Resource Hub.

If you would like to learn more about the inheritance and impact of this condition, 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 genetic counselling can be found at:

• Information on Genetic Services
• The National and State Services pages underneath the ‘Genetic Counselling’ sections listed

Neuromuscular conditions may be diagnosed using a range of tests, including nerve conduction studies (to test nerve function) and electromyography (EMG, to assess muscle response), muscle biopsies, blood tests and genetic testing (if a genetic cause is suspected).¹ The exact diagnostic methods will depend on the type of neuromuscular condition.

Information about diagnosis of specific neuromuscular conditions can be found at The Loop – Your Neuromuscular Resource Hub.

Please speak to your medical team to learn more about the diagnostic pathway for a particular neuromuscular condition.

Treatment or management strategies varies depending on the type of neuromuscular condition. In many cases, there is no curative treatment and treatment is aimed at reducing or managing symptoms and improving quality of life.²

Information about treatment for specific neuromuscular conditions can be found at:

• Australasian Neuromuscular Network
• TREAT-NMD
• The Loop – Your Neuromuscular Resource Hub

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.

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.

Healthcare professionals involved in the treatment of neuromuscular conditions may include general practitioners (GP), paediatricians, geneticists, neurologists, cardiologists, respiratory physicians, physiotherapists, and orthopaedics. The need for different healthcare professionals may change over a person’s lifetime and extend beyond those listed here.

The Loop – Your Neuromuscular Resource Hub: NMC Clinics lists available specialist clinics provide care and support for children and adults living with certain neuromuscular conditions and other rare diseases across Australia.

There are no clinical guidelines available for neuromuscular conditions as a collective. Clinical guidelines for individual neuromuscular conditions should be consulted where available.

Australasian Neuromuscular Network highlights international Standards of Care and Guidelines for a number of neuromuscular conditions.

More information on Care Guidelines and a range of resources can be found at TREAT-NMD: Resources & support.

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.

Emergency management of neuromuscular conditions is specific to each condition.

It is important that people living with a neuromuscular condition discuss emergency care with their treating healthcare professional – this may include information from a neurologist, cardiologist and/or respiratory physician.

Medical Alert Cards are available for a few common neuromuscular conditions from Muscular Dystrophy QLD. Medical alert or medication cards may also be available for other neuromuscular conditions from their specific rare disease organisations.

The Australian Neuromuscular Disease Registry is an Australian-wide registry that collects information about individuals with certain neuromuscular conditions. A list of the neuromuscular conditions on the registry can be found at Australian Neuromuscular Disease Registry: About us. The registry collects important medical information from adult and child patients across the country to improve the understanding of neuromuscular disease and accelerate the development of new therapies.

There are specific considerations around participating in rare disease research, including clinical trials. It is important to be mindful of issues such as data privacy, research ethics, consent and differences in research regulations between Australia and other countries.

If you are interested in finding clinical trials for your condition, please visit the following websites; however, there may not be any clinical trials available:

• Australian Clinical Trials
• ClinicalTrials.gov

It is best to discuss your interest in any clinical trials with your medical team to determine suitability and eligibility.

Please note that RVA does not necessarily monitor or endorse each group/organisation’s operational governance and activities.

Australian Organisations:

Muscular Dystrophy Foundation Australia
Website: https://mdaustralia.org.au/

Muscular Dystrophy Foundation Australia (MDF) is the national voice for Australia’s neuromuscular community. MDF members are state and territory-based organisations which provide specialised support and services (including professional services as registered NDIS providers) for their neuromuscular communities.

State/territory-based organisations:

Capital Region Muscular Dystrophy
Website: https://www.crmd.org.au/

Muscular Dystrophy NSW
Website: https://mdnsw.org.au/

Muscular Dystrophy Queensland
Website: https://mdqld.org.au/

Muscular Dystrophy Tasmania
Website: https://musculardystrophytasmania.com.au/

Neuromuscular WA
Website: https://neuromuscularwa.org.au/

For individuals living in South Australia (SA) and Northern Territory (NT), please contact Muscular Dystrophy Foundation Australia.

For individuals living in Victoria (VIC), please contact:

Muscular Dystrophy Australia
Website: https://www.mda.org.au/

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.

Neuromuscular conditions varies between individuals, and each person’s experience is unique.

Personal stories can be found at the The Loop: Your Neuromuscular Resource Hub’s YouTube channel.

The Loop – Your Neuromuscular Resource Hub: Living Life has stories and guides that offer lived-experience and tips from individuals with neuromuscular conditions.

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 Loop – Your Neuromuscular Resource Hub: Funding provides information on available social services that are relevant to the neuromuscular community.

The stated-based Muscular Dystrophy and Neuromuscular organisations provide a range of social services for people living within each state. Please see Muscular Dystrophy Foundation Australia’s State Partner Organisations for more information.

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, including families and carers, 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 people 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

The Loop – Your Neuromuscular Resource Hub: Health and Wellbeing provides health and wellbeing information that is relevant to the neuromuscular community.

Further information on neuromuscular conditions can be found at:

• healthdirect: Neuromuscular system
• Australasian Neuromuscular Network
• TREAT-NMD – global network of experts in the neuromuscular field
• Muscular Dystrophy Association (United States of America)

• Australasian Neuromuscular Network: Resources for Health Professionals
• TREAT-NMD – global network of experts in the neuromuscular field
• The Loop – Your Neuromuscular Resource Hub: Resources for Health professionals and disability support workers

This page has been co-developed by Rare Voices Australia (RVA)’s RARE Portal team in consultation with Neuromuscular WA, as a nominated representative of  Muscular Dystrophy Foundation 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.