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.
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, Myasthenia Alliance Australia, which represents Myasthenia Gravis Association of Queensland Inc. and The Australian Myasthenic Association in NSW.
Quick Page Search:
Emergency Management | Clinical Care Guidelines | Synonyms | Summary | Personal Stories | Symptoms | Cause/Inheritance | Diagnosis | Treatment | Clinical Care | Research and Data | Rare Disease Organisation(s) | Support Services/Resources | Mental Health | Other | References
Emergency Management
There may be special considerations for the emergency management of individuals living with myasthenia gravis (MG) presenting to emergency departments.
MG can affect respiratory muscles and result in breathing difficulties (myasthenia crisis), which can be life threatening and is a medical emergency.1,2
International Consensus Guidance for Management of Myasthenia Gravis: 2020 Update (Table 1) lists drugs to avoid or use with caution when treating individuals with MG.3
OrphanAnesthesia has Anaesthesia recommendations for Myasthenia Gravis; please note this was last updated in 2019.
Clinical Care Guidelines
We are not aware of any current clinical care guidelines for myasthenia gravis (MG) in Australia. If you know of any relevant care guidelines, please let us know via the Contribute page.
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:
- International Consensus Guidance for Management of Myasthenia Gravis – developed by a panel of 15 international experts from 10 different countries; please note this was last updated in 2020.
- Guidance for the management of myasthenia gravis (MG) and Lambert-Eaton myasthenic syndrome (LEMS) during the COVID-19 pandemic prepared by an international working group of MG experts and endorsed by American Association of Neuromuscular & Electrodiagnostic Medicine (AANEM); please note that this was prepared in 2020.
Synonyms
Acquired Myasthenia; Autoimmune Myasthenia Gravis
Summary
Myasthenia gravis (MG) is an autoimmune neuromuscular condition, characterised by weakness and fatiguability of the skeletal muscles. Skeletal muscles are muscles that allow voluntary movement, such as muscles controlling the eye and eyelid, facial expressions, talking, chewing, swallowing and the arms and legs.4 MG is caused by disruption in the transmission of signals from nerve cells (neurons) to those muscles at the neuromuscular junction (NMJ). Weakness tends to increase during periods of activity and improve temporarily after rest.1,4 It may also be exacerbated by heat and stress.5 MG can be life-threatening in instances where respiratory muscles are affected and result in difficulty in breathing (myasthenia crisis).1,2
MG can occur at any age, with the adult onset (ORPHA:391490) most common in females before age of 40 years and males after 50 years, whilst juvenile myasthenia gravis (ORPHA:391497) refers to onset before 18 years of age.5 There is also a transient neonatal form of MG (ORPHA:391504) that can occur in some (but not all) newborns born to mothers with MG – this is due to transfer of maternal autoantibodies through the placenta during pregnancy, resulting in poor muscle strength (hypotonia) and feeding difficulties in some newborns, but symptoms are not permanent.1,5
There are other myasthenic (muscular weakness) disorders, such as Congenital Myasthenic Syndromes (CMS), which are genetic conditions and Lambert Eaton Myasthenic Syndrome (LEMS), which is an autoimmune disorder that affects skeletal muscles and the autonomic nervous system.
Personal Stories
Myasthenia gravis (MG) varies between individuals, and each person’s experience is unique.
Personal Story shared with Rare Voices Australia: Sophie’s Story
If you would like to share your personal story with Rare Voices Australia and have it included on the RARE Portal, please visit Rare Voices Australia: Share Your Story.
Symptoms
Myasthenia gravis (MG) is characterised by fatiguable weakness (weakness that worsens with physical activity and may improve temporarily with rest).1,4 MG can be restricted to the muscles of the eyes (ocular MG) or affect multiple skeletal muscle groups (generalised MG), such as muscles of the face, neck, throat, eyes and limbs. Symptoms may include drooping eyelid (ptosis), blurred or double vision, slurred speech, difficulties in chewing and swallowing, weakness in arms and legs and in lifting head, and difficulties in breathing.1-5 These symptoms can be highly variable between individuals as well as across an individual’s lifetime.
Some individuals with MG may have a tumour in their thymus (thymoma).1,4.6 An increased likelihood of developing other autoimmune diseases, particularly thyroid-related autoimmune conditions, has also been observed in people living with MG.1,6
Please speak to your medical team to learn more about the symptoms and complications of MG.
Cause/Inheritance
Myasthenia gravis (MG) results from a defect in the post-synaptic neuromuscular junction,5 which affects the transmission of signals from neurons (nerve cells) to muscles.1 This defect is usually caused by one’s own body producing auto-antibodies that attack components of the neuromuscular junction, such as anti-AChr antibodies targeting the acetylcholine receptors on muscle cells and anti-MuSK antibodies targeting muscle-specific receptor tyrosine kinase.4-6
Anti-LRP4 (low density lipoprotein receptor-related protein 4) antibodies have also been associated with MG.6 There are also individuals who are seronegative, in that they have been diagnosed with MG due to clinical symptoms, but auto-antibodies have not been detected. In addition, some cases of MG have also been linked to tumours in the thymus gland.4
MG is not a genetic condition, but a predisposition to developing autoimmune conditions may sometimes be present in families.1,6
Diagnosis
Myasthenia gravis (MG) may be diagnosed using a blood test to detect for the presence of auto-antibodies that have been associated with MG.1,2,6 Not all individuals with MG may have these auto-antibodies.1,2
Other diagnostic methods for MG may include:1
- electromyography (EMG) or single fibre electromyography (SFEMG) to assess nerve-to-muscle signal transmission
- a chest computed tomography (CT) scan to detect for a tumour in the thymus (thymoma) or an enlarged thymus gland
Treatment
Myasthenia gravis (MG) is generally a long-term condition that requires continual treatment; however, some individuals may achieve remission where they do not experience any symptoms.1
Treatment of MG may include:1,2,6
- Medication containing anti-acetylcholinesterase agents; this treatment is fast-acting, but short-lived (works quickly but effects do not last long)
- Medication that suppresses the immune system, such as corticosteroids and steroid-sparing agents
- Plasmapheresis – where the liquid portion of blood that contains the auto-antibodies (plasma) are removed and replaced with treated or new plasma
- Intravenous immunoglobulin (IVIg) – infusion of plasma solution from healthy donors
A thymectomy (removal of the thymus gland) may also be recommended for some individuals living with MG.2,3
It is best to speak with your medical team to learn more about suitable treatments for MG and its associated symptoms. Treatment will depend on an individual’s specific symptoms and complications.
Clinical Care
Healthcare professionals involved in the treatment of MG may include general practitioners (GP), neurologists, ophthalmologists, occupational therapists, speech pathologists, physiotherapists, and exercise physiologists. The need for different healthcare professionals may change over a person’s lifetime and extend beyond those listed here.
Clinics
Speciality Clinic for Myasthenia Gravis and Myasthenic Syndromes (NSW)
Department of Neurology
Concord Repatriation and General Hospital, Sydney
Ph: 02 9767 6416 / 02 9767 5623
Website: https://www.slhd.nsw.gov.au/concord/department-neurosciences-services.html
Neuroimmunology clinic provides services for patients with Neurological disorders with an immunologic basis including myasthenia gravis and multiple sclerosis and includes clinical research and access to clinical trials.
Neurology Service, Princess Alexandra Hospital (QLD)
Level 2C, Building 1
Princess Alexandra Hospital
199 Ipswich Rd
Woolloongabba 4102 Qld
Website: https://www.metrosouth.health.qld.gov.au/services/neurology/neurology-princess-alexandra-hospital
Myasthenia gravis is one of the conditions treated at the Princess Alexandra Hospital neurology clinics. The neurology team includes doctors, nurses, occupational therapists, physiotherapists and speech pathologists.
The Neuroimmunology Centre (VIC)
The Royal Melbourne Hospital (RMH) Elizabeth St
Level 7
635 Elizabeth St, Melbourne, Victoria
Email: [email protected]
Phone:(03) 9342 7061
Website:https://www.thermh.org.au/services/neurology-stroke/neurology-stroke-services/multiple-sclerosis-neuroimmunology
The Neuroimmunology clinics are dedicated to the assessment and long-term management of people with a possible or definite diagnosis of MS and other neuroimmunological conditions, including neuromyelitis optica, neurosarcoidosis, autoimmune encephalitis, cerebral vasculitis and myasthenia gravis.
Research and Data
For research updates, please visit Myasthenia Alliance Australia: Research
Please visit Australian Clinical Trials to learn about clinical trials for myasthenia gravis (MG) in Australia; there may not be any clinical trials currently available.
Information regarding clinical trials for MG 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 Myasthenia Gravis Associations of Australia have come together under a National Myasthenia Alliance to enhance the support already offered to Australians suffering from the neurological auto-immune conditions categorised under the term ‘Myasthenia’.
Myasthenia Alliance Australia (MAA) RVA Partner Australian Organisation
Website: https://myastheniaalliance.org.au/
Phone: 1800 802 568
Email: [email protected]
Below are the organisations that make up MAA; both organisations provide support for all Australians living with myasthenia, including their families and carers, regardless of location:
Myasthenia Gravis Association of Queensland Inc. RVA Partner Australian Organisation
Website: https://www.mgaq.org.au/
Phone: 1800 802 568
Email: [email protected]
Contact form: https://www.mgaq.org.au/contact-us
The Australian Myasthenic Association in NSW Inc. Australian Organisation
Website: https://www.myasthenia.au/
Phone: (02) 4283 2815
Email: [email protected]
Support Services/Resources
Myasthenia Alliance Australia‘s state organisations provide support resources relevant for individuals living with myasthenia gravis (MG):
- Myasthenia Gravis Association of Queensland Inc.: Resources
- Australian Myasthenic Association in NSW: Patient Support
The Loop – Your Neuromuscular Resource Hub: Funding provides information on available social services that are relevant to the neuromuscular community.
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.
Mental Health
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:
- RARE Portal: Mental Health and Wellbeing Support for Australians Living with a Rare Disease
- The National and State Services pages underneath the ‘Mental Health’ sections listed
Other
Further information on Myasthenia gravis (MG), or neuromuscular conditions in general, can be found at:
References
- Myasthenia Gravis Association of Queensland Inc. Myasthenia Gravis – a comprehensive guide to living with and understanding this manageable condition. Queensland; 2022. 36p. https://mgaq.org.au/sites/default/files/2024-09/MGAQ_Brochure_2022.pdf
- Suresh AB, Asuncion RMD. Myasthenia Gravis. Updated 8 August 2023. In: StatsPearl [internet]. Treasure Island (FL): StatPearls Publishing. 2024-. Accessed 12 November 2024. https://www.ncbi.nlm.nih.gov/books/NBK559331/
- Narayanaswami P, Sanders DB, Wolfe G, et al. International Consensus Guidance for Management of Myasthenia Gravis: 2020 Update. Neurology 2021; 96(3):114-122. https://doi.org/10.1212/WNL.0000000000011124
- Genetic and Rare Diseases (GARD) Information Center. Myasthenia Gravis. Accessed 12 November 2024. https://rarediseases.info.nih.gov/diseases/7122/myasthenia-gravis
- Orphanet. Myasthenia Gravis. Accessed 12 November 2024. https://www.orpha.net/en/disease/detail/589
- Gilhus NE, Tzartos S, Evoli A, et al. Myasthenia gravis. Nat. Rev. Dis. Primers 2019; 5:30. https://doi.org/10.1038/s41572-019-0079-y
Page Last Updated
19/11/2024 17:00
