Muscular Dystrophy (Group of Conditions)

Muscular Dystrophy (Group of 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 Huband Better Health Channel: Neuromuscular disorders.2 Individual pages for specific types of muscular dystrophy 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 are often special considerations for the emergency management of individuals living with muscular dystrophy presenting to emergency departments.

Emergency management of muscular dystrophy is specific to each condition.

It is important that people living with muscular dystrophy 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 some types of muscular dystrophy from Muscular Dystrophy Queensland.

Clinical Care Guidelines

There are no clinical guidelines available for muscular dystrophy as a collective. Clinical guidelines for a specific type of muscular dystrophy should be consulted where available.

Australasian Neuromuscular Network highlights international Standards of Care and Guidelines for a number of muscular dystrophies.

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

Summary

Muscular dystrophy is a group of genetic conditions that cause muscle weakness and muscle loss (atrophy/muscle wasting).3,4 These conditions are progressive, with worsening of symptoms over time.4 Muscular dystrophy mainly affects the muscles that control movement (skeletal muscles) but in some cases, can affect involuntary muscles affecting the heart (cardiac muscles) and breathing (respiratory muscles) as the condition progresses.1

The symptoms and extent of muscle weakness varies depending on the type of muscular dystrophy as well as between individuals with the same condition.1,4 Information on the different types of muscular dystrophy can be found at The Loop – Your Neuromuscular Resource Hub.

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

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

Symptoms

Individuals with muscular dystrophy often experience muscle deterioration, impacting on muscle strength and function.1 Muscles that control movement (skeletal muscles) are usually affected first. In some cases, there are delays in motor development, particularly in learning how to walk.3 In other cases, the symptoms only present later, and individuals are observed to have trouble walking, have frequent falls and find it difficult to get back on their feet. They often lose their ability to walk over time and require a wheelchair. As the condition progresses, involuntary muscles become involved, resulting in issues affecting the heart (due to cardiac muscles) and breathing (respiratory muscles).1,3

Presentation of the disease often varies and individuals with the same type of muscular dystrophy can experience different symptoms, age of onset and disease progression.1

Information about symptoms of a type of muscular dystrophy may be found at The Loop – Your Neuromuscular Resource Hub.

Please speak to your medical team to learn more about the symptoms for a specific type of muscular dystrophy.

Cause/Inheritance

Muscular dystrophy is caused by a genetic change in a particular gene that affects muscles. This genetic change can be inherited or acquired (random mutation).1,3 The exact genetic cause and inheritance pattern depends on the type of muscular dystrophy.

More information about the cause for specific types of muscular dystrophy can be found at The Loop – Your Neuromuscular Resource Hub.

If you would like to learn more about the inheritance and impact of a particular type of muscular dystrophy, 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

Muscular dystrophy may be diagnosed using a range of tests, including blood tests and genetic testing, muscle biopsies, tests for the muscles and nervous system, heart, as well as lung and breathing.3

More information about diagnostic tests for specific types of muscular dystrophy 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 type of muscular dystrophy.

Treatment

There is no curative treatment for muscular dystrophy.3 In some cases, medication such as corticosteroids may help slow down disease progression.3 Treatment is mainly aimed at reducing or managing symptoms and improving quality of life. Management strategies varies depending on the type of muscular dystrophy and may include physiotherapy and occupational therapy, assistive equipment, mobility and medical aids.1,3 Information on how equipment and assistive technology can help can be found at The Loop – Your Neuromuscular Resource Hub: Equipment.

Information about treatment for specific types of muscular dystrophy can be found at:

It is best to speak with your medical team to learn more about suitable management strategies for a particular type of muscular dystrophy.

Clinical Care

Healthcare professionals involved in the treatment of muscular dystrophy may include general practitioners (GP), paediatricians, geneticists, cardiologists, respiratory physicians, physiotherapists, occupational therapists, hydrotherapists, podiatrists, dietitians, speech pathologists, psychologists, counsellors and social workers.2 The need for different healthcare professionals may change over a person’s lifetime and extend beyond those listed here.

More information about the relevant healthcare professionals for muscular dystrophy can be found at The Loop – Your Neuromuscular Resource Hub: Medical & Allied Health Support.

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, including muscular dystrophies.

Research

The Australian Neuromuscular Disease Registry is an Australian-wide registry that collects information about individuals with certain neuromuscular conditions, including muscular dystrophies. 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 type of muscular dystrophy in Australia; there may not be any clinical trials currently available.

Information regarding clinical trials for muscular dystrophies 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, including muscular dystrophies. There may also be rare disease organisations that support a specific type of muscular dystrophy – please visit the A-Z Support Directory to find if there is a rare disease organisation for your specific muscular dystrophy.

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 Queensland RVA 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, including for muscular dystrophies.

Other

Further information on muscular dystrophies can be found at:

References
  1. Muscular Dystrophy Foundation Australia. Accessed 2 November 2023. https://mdaustralia.org.au/
  2. The Loop – Your Neuromuscular Resource Hub. Accessed 2 November 2023. https://theloopcommunity.org/
  3. Muscular dystrophy. Accessed 8 November 2023. https://www.healthdirect.gov.au/muscular-dystrophy
  4. Raising Children Network. Muscular dystrophy: children & teens. Accessed 14 November 2023. https://raisingchildren.net.au/guides/a-z-health-reference/muscular-dystrophy
Page Last Updated

21/03/2024 12:32