Diseases of the Nervous System Muscular Dystrophy
Limb-Girdle Muscular Dystrophy 2A/R1 (LGMD 2A/R1)
Rare Disease Classifications:
ORPHA:267 Calpain-3-related limb-girdle muscular dystrophy R1
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.
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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 2A/R1 (LGMD 2A/R1) presenting to emergency departments.
It is important for individuals to inform all healthcare providers of their LGMD diagnosis.
Clinical Care Guidelines
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)
Synonyms
Calpain-3-related limb-girdle muscular dystrophy R1; Autosomal recessive limb-girdle muscular dystrophy type 2A; Calpain-3-related LGMD R1; LGMD type 2A; LGMD2A; Limb-girdle muscular dystrophy due to calpain deficiency; Limb-girdle muscular dystrophy type 2A; Primary calpainopathy
Summary
Limb-girdle muscular dystrophy 2A/R1 (LGMD 2A/R1) is one of the more common types of limb-girdle muscular dystrophy (LGMD). 1,2 LGMD 2A/R1 is caused by genetic changes in the CAPN3 gene.2 Conditions caused by CAPN3 gene changes are also known as calpainopathy.2,3 LGMD 2A/R1 is an autosomal recessive condition2,4, which is represented by the letter ‘R’ (previously classified as Type 2).5
LGMD 2A/R1 is characterised by progressive weakness and loss (wasting/atrophy) of the muscles closest to the centre of the body (the proximal muscles), mainly affecting the hips and shoulders.2 This may gradually affect mobility and result in loss of ability to walk.1 There is usually no effect on heart (cardiac) muscles.2,3 The symptoms of LGMD 2A/R1 may appear during childhood or in adulthood, with reported onset of symptoms between 2-40 years.1,3
Useful Links for Professionals
Orphanet: Calpain 3 related limb girdle muscular dystrophy R1
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 2A/R1 (LGMD 2A/R1) mainly involves progressive weakness and loss (wasting/atrophy) of the hip and shoulder muscles.2 The weakness tends to be symmetrical (on both sides)2,3 and often affects the ability to walk, resulting in a waddling gait and difficulties in climbing stairs or getting up from a sitting position.3 It may progress to complete loss of ability to walk and use of a wheelchair may be required.4
Other symptoms may include abnormal protrusion of the shoulder blades (scapular winging), abnormally large calf muscles (calf pseudo-hypertrophy), shortening of muscles (contractures) and muscle pain.3,4
Please speak to your medical team to learn more about the symptoms for LGMD 2A/R1.
Cause/Inheritance
Limb-girdle muscular dystrophy 2A/R1 (LGMD 2A/R1) is caused by genetic changes in the CAPN3 gene and is inherited in an autosomal recessive manner.2,4
More information on this inheritance pattern can be found at 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 2A/R1 (LGMD 2A/R1) may be based on clinical examination, muscle biopsies, blood tests and genetic testing.2
Elevated serum creatine kinase (CK) concentration (hyperCKemia) is often observed in children or young individuals,2,3 however the concentration may decrease with disease progression and muscle loss (wasting/atrophy).3
Please speak to your medical team to learn more about the diagnosis pathway for LGMD 2A/R1.
Treatment
There is no curative treatment for limb-girdle muscular dystrophy 2A/R1 (LGMD 2A/R1) but there is considerable research underway for LGMD, including LGMD 2A/R1.1,3 Current 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.
Please speak to your medical team to learn more about the management strategies for LGMD 2A/R1. 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 2A/R1 (LGMD 2A/R1) may include general practitioners (GP), geneticists, neurologists, physiotherapists and rehabilitation specialists.1-2 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 2A/R1 (LGMD 2A/R1) can be found at:
References
- Daniel Ferguson LGMD Foundation. Accessed 16 November 2023. https://www.dffoundation.com.au/
- Genetic and Rare Diseases (GARD) Information Center. Calpain-3-related limb-girdle muscular dystrophy R1. Accessed 16 November 2023. https://rarediseases.info.nih.gov/diseases/1057/calpain-3-related-limb-girdle-muscular-dystrophy-r1
- Angelini, C. Calpainopathy. [2005, updated 1 December 2022] In: Adam MP, Mirzaa GM, Pagon RA, et al., editors. Gene Reviews® [Internet]. Seattle, University of Washington; 1993 [cited 16 November 2023]. https://www.ncbi.nlm.nih.gov/books/NBK1313/
- OMIM – Online Mendelian Inheritance in Man. #253600 – MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 1; LGMDR1. Accessed 16 November 2023. https://www.omim.org/entry/253600
- Straub V, Murphy A, Udd B. 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
Page Last Updated
04/12/2024 11:23
