Neuromuscular Conditions

Neuromuscular Conditions

IMPORTANT INFORMATION

The information on the Rare Awareness Rare Education (RARE) Portal is intended for educational purposes only and does not replace professional advice.

Rare diseases typically display a high level of symptom complexity and variability. Individuals diagnosed with the same rare disease may be impacted differently and each person’s experience is unique. Please seek support from qualified healthcare professionals to learn more about the most suitable care and support options for you.

For more information on this group of conditions, please refer to The Loop – Your Neuromuscular Resource Hub1 and Better Health Channel: Neuromuscular disorders.2 Individual pages for specific neuromuscular conditions will be added to the RARE Portal in time.

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.

Contributors

This page has been co-developed with RVA Partner, Neuromuscular WA on behalf of RVA Partner, Muscular Dystrophy Foundation Australia.3

Emergency Management

There may be special considerations for the emergency management of individuals living with neuromuscular conditions presenting to emergency departments.

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.

Clinical Care Guidelines

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.

Summary

Neuromuscular conditions are a group of disorders that impact the muscles and its connecting nerves (the neuromuscular system).2 The body sends messages (signals) from the brain to the muscles through the nervous system, which enables the muscles to move and function properly.2,4 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.4 There may be progressive loss of muscles (muscle wasting/atrophy), 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.2 Symptoms depend on the type of neuromuscular condition, and which nerves and muscles are affected.4

Below are some types of neuromuscular conditions2,4:

  • 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)

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

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

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

Symptoms

Symptoms vary depending on the type of neuromuscular condition, and which nerves and muscles are affected.4 Symptoms may include tiredness, muscle weakness or pain, spasms or cramps and stiffness.2,4 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).1,2,4

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 neuromuscular condition.

Cause/Inheritance

Neuromuscular conditions may be genetic conditions (caused by a mutation in the DNA), 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 a neuromuscular condition with a genetic cause, 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 on genetic counselling can be found on the National Services page and specific State and Territory Services pages on the RARE Portal.

Diagnosis

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).2 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 diagnosis pathway for a particular neuromuscular condition.

Treatment

Treatment or management strategies varies depending on the type of neuromuscular condition. In many cases, there is no cure and treatment is aimed at reducing or managing symptoms and improving quality of life.4

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

It is best to speak with your medical team to learn more about any available treatment or suitable management strategies for a particular neuromuscular condition.

Clinical Care

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.

Research

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.

Please visit Australian Clinical Trials to learn about clinical trials for a specific neuromuscular condition in Australia; there may not be any clinical trials currently available.

Information regarding clinical trials for neuromuscular conditions in other countries can be found at ClinicalTrials.gov; there may not be any clinical trials currently available.

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

Rare Disease Organisation(s)

The organisations listed below provide support for all individuals with neuromuscular conditions. There may also be rare disease organisations that support a specific neuromuscular condition – please visit the A-Z Support Directory to find if there is a rare disease organisation for your specific neuromuscular condition.

National Organisation

Muscular Dystrophy Foundation Australia RVA Partner Australian Organisation

Website: https://mdaustralia.org.au/
Email: [email protected]
Contact form: https://mdaustralia.org.au/contact/

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

Muscular Dystrophy NSW RVA Partner Australian Organisation
Website: https://mdnsw.org.au/
Email: [email protected]

Muscular Dystrophy QueenslandRVA Partner Australian Organisation
Website: https://mdqld.org.au/
Email: [email protected]

Muscular Dystrophy Tasmania Australian Organisation
Website: https://musculardystrophytasmania.com.au/
URL: https://musculardystrophytasmania.com.au/contact-us/

Capital Region Muscular Dystrophy Australian Organisation
Website: https://www.crmd.org.au/
Email: [email protected]

Neuromuscular WA RVA Partner Australian Organisation
Website: https://neuromuscularwa.org.au/
Email: [email protected]

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 Australian Organisation
Website: https://www.mda.org.au/
Email: [email protected]

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

Social Services

Please visit the National and State Services pages for information on general social services.

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.

Mental Health

Please visit the ‘Mental Health’ sections listed on the National and State Services pages.

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

Other

Further information on neuromuscular conditions can be found at:

References
  1. The Loop – Your Neuromuscular Resource Hub. Accessed 2 November 2023. https://theloopcommunity.org/
  2. Better Health Channel. Neuromuscular disorders. Accessed 2 November 2023. https://www.betterhealth.vic.gov.au/health/ConditionsAndTreatments/neuromuscular-disorders
  3. Muscular Dystrophy Foundation Australia. Accessed 2 November 2023. https://mdaustralia.org.au/
  4. Neuromuscular system. Accessed 2 November 2023. https://www.healthdirect.gov.au/neuromuscular-system
Page Last Updated

21/03/2024 12:49