Diseases of the Nervous System Muscular Dystrophy
Limb-Girdle Muscular Dystrophy (LGMD) (Group of Conditions)
Rare Disease Classifications:
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, Daniel Ferguson LGMD Foundation.1
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 limb-girdle muscular dystrophy (LGMD) presenting to emergency departments.
For some types of LGMD, there may be complications arising from use of anaesthesia, hence caution may be required when using anaesthesia in the treatment of LGMD patients.2 It is important for individuals to inform the medical team of their LGMD diagnosis prior to any anaesthetics being administered.
OrphanAnesthesia has Anaesthesia recommendations for limb-girdle muscular dystrophy; please note this was last updated in 2015.
Clinical Care Guidelines
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:
- 229th ENMC international workshop: Limb girdle muscular dystrophies – Nomenclature and reformed classification (Naarden, the Netherlands, 17–19 March 2017) reports on a consensus on an updated nomenclature and classification for Limb-Girdle Muscular Dystrophy (LGMD)
- Evidence-based guideline summary: diagnosis and treatment of limb-girdle and distal dystrophies: report of the guideline development subcommittee of the American Academy of Neurology and the practice issues review panel of the American Association of Neuromuscular & Electrodiagnostic Medicine (United States of America, published in 2014)
Summary
Limb-girdle muscular dystrophy (LGMD) is a group of genetic conditions that primarily affects the muscles closest to the centre of the body (the proximal muscles), which are the shoulder, pelvis, upper arm and upper leg muscles.3,4 These muscles are also described as the limb-girdle muscles. These conditions are a type of muscular dystrophy and are characterised by progressive muscle weakness and loss (wasting/atrophy).3 Symptoms of LGMD vary between the different types and can range from mild forms (in which there is later onset and slow progression) to severe forms (onset during early childhood and rapid progression).3
Personal Stories
Limb-girdle muscular dystrophy (LGMD) varies between individuals, and each person’s experience is unique.
Please visit Daniel Ferguson LGMD Foundation: About Us to read Daniel’s story.
Symptoms
Limb-girdle muscular dystrophy (LGMD) mainly involves progressive weakness and loss (wasting) of the muscles closest to the centre of the body (proximal muscles), which are the muscles of the shoulder, pelvis, upper arms and upper legs.3,4 The hip muscles are often the first to be affected. Weakness in the proximal muscles may impact on how the individual walks resulting in a waddling gait and cause difficulties in climbing stairs, getting up from a sitting position, raising their arms or carrying heavy objects.4
For some types of LGMD, there may be weakening of the heart muscle, resulting in difficulties in pumping blood to the rest of the body (cardiomyopathy).3,4 Respiratory muscles may also be affected in some cases, leading to breathing difficulties.
Symptoms can vary between individuals – those with the same type of LGMD may experience different symptoms, age of onset and disease progression.4
Please speak to your medical team to learn more about the symptoms for a specific type of LGMD.
Cause/Inheritance
The cause of limb-girdle muscular dystrophy (LGMD) is genetic.3,4 These conditions are caused by genetic changes in specific genes – the affected gene differs between the different types of LGMD.
Conditions that have an autosomal dominant inheritance pattern are represented by the letter ‘D’ (previously classified as Type 1), whilst conditions with an autosomal recessive pattern are represented by the letter ‘R’ (previously classified as Type 2).5
More information on the relevant inheritance patterns can be found at:
- Centre for Genetics Education: Factsheet on autosomal dominant inheritance
- Centre for Genetics Education: Factsheet on autosomal recessive inheritance
If you would like to learn more about the inheritance and impact of a particular type of LGMD, 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
Diagnosis of limb-girdle muscular dystrophy (LGMD) may be based on clinical examination, muscle biopsies, blood tests and genetic testing.3
Please speak to your medical team to learn more about the diagnosis pathway for a particular type of LGMD.
Treatment
There is no curative treatment for limb-girdle muscular dystrophy (LGMD) but there is considerable research underway for LGMD, including LGMD 2A/R1.2-3 Treatment is mainly aimed at reducing or managing symptoms and improving quality of life. Management strategies may include physiotherapy and occupational therapy, assistive equipment, mobility and medical aids. Information on equipment and assistive technology can be found at The Loop – Your Neuromuscular Resource Hub: Equipment.
For certain types of LGMD, there may be complications of the heart and breathing muscles (respiratory system), hence regular monitoring may be required.3,4
Please speak to your medical team to learn more about the management strategies for a particular type of LGMD. 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
Healthcare professionals involved in the treatment of limb-girdle muscular dystrophy (LGMD) may include general practitioners (GP), geneticists, genetic counsellors, neurologists, physiotherapists and occupational therapists. 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 across Australia.
Research and Data
The Australian Neuromuscular Disease Registry is an Australian-wide registry that collects information about individuals with certain neuromuscular conditions, including limb-girdle muscular dystrophy (LGMD). 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 LGMD in Australia; there may not be any clinical trials currently available.
Information regarding clinical trials for LGMD 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)
Daniel Ferguson LGMD Foundation
Website: https://www.dffoundation.com.au/
Contact form: https://www.dffoundation.com.au/contact.html
Daniel Ferguson LGMD Foundation aims to support those living with all types of LGMD by improving their quality of life, increasing community awareness of the disorder and funding much-needed research into this disease for which no cure exists.
Please note that RVA does not necessarily monitor or endorse each group/organisation’s operational governance.
Support Services/Resources
Daniel Ferguson LGMD Foundation: Peer Support has information about peer support relevant for individuals living with limb-girdle muscular dystrophy (LGMD).
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 relevant to limb-girdle muscular dystrophy (LGMD) can be found at:
- The Loop – Your Neuromuscular Resource Hub: Limb Girdle Muscular Dystrophy (LGMD)
- RARE Portal: Muscular Dystrophy
- Genetic and Rare Diseases (GARD) Information Center: Limb-girdle muscular dystrophy
- National Organization for Rare Disorders (NORD): Limb-Girdle Muscular Dystrophies
- TREAT-NMD: Limb girdle muscular dystrophy
References
- Daniel Ferguson LGMD Foundation. Accessed 15 November 2023. https://www.dffoundation.com.au/
- Straub V, Murphy A, Udd B, et al. 229th ENMC international workshop: Limb girdle muscular dystrophies –nomenclature and reformed classification Naarden, the Netherlands, 17–19 March 2017. Neuromuscul. Disord. 2018; 28(8): 702-710. https://doi.org/10.1016/j.nmd.2018.05.007
- Cao XQ, Joypaul K, Cao F, et al. Anesthetic management of a patient with limb-girdle muscular dystrophy 2B:CARE-compliant case report and literature review. BMC Anesthesiology. 2019;19(155). https://doi.org/10.1186/s12871-019-0813-8
- Orphanet. Limb-girdle muscular dystrophy. Accessed 15 November 2023. https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=263
- National Organization for Rare Disorders (NORD). Limb-Girdle Muscular Dystrophies. Accessed 15 November 2023. https://rarediseases.org/rare-diseases/limb-girdle-muscular-dystrophies
Page Last Updated
04/12/2024 11:02
