Limb-girdle muscular dystrophy (LGMD) is a group of rare muscular dystrophies that cause muscle weakness in your shoulders, upper arms, hips and upper legs. There are several different subtypes based on which gene has a mutation. Treatment involves managing symptoms with various strategies, like physical therapy, assistive devices and medications.
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Limb-girdle muscular dystrophy (LGMD) is an umbrella term that represents several rare types of muscular dystrophy that cause muscle weakness in your shoulders, upper arms, hips and upper legs. LGMD is a chronic (lifelong) condition that affects people of all ages.
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Cleveland Clinic is a non-profit academic medical center. Advertising on our site helps support our mission. We do not endorse non-Cleveland Clinic products or services. Policy
Your “limb girdles” are the bony structures that surround your shoulder and pelvic areas. LGMD affects the muscles around these areas.
Muscular dystrophy refers to a group of genetic conditions that affect the functioning of your muscles. In general, the symptoms of muscular dystrophy worsen over time.
Limb-girdle muscular dystrophy is rare. All the subtypes combined affect about 2 in every 100,000 people in the United States. In comparison, Duchenne muscular dystrophy, the most common form of muscular dystrophy, affects about 1 in 3,600 men and people assigned male at birth in the U.S.
The most common subtype of limb-girdle muscular dystrophy in the U.S. is LGMD R1 calpain3-related (calpainopathy). It accounts for 12% to 30% of all LGMD cases.
The main symptoms of limb-girdle muscular dystrophy are muscle weakness and atrophy (loss) in the following areas:
The age at which symptoms begin and the rate at which they get more severe varies depending on the subtype of LGMD.
Issues with walking may be the first sign of LGMD. Specific symptoms related to hip and upper leg muscle weakness include:
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Specific symptoms related to shoulder and upper arm muscle weakness include difficulty with:
Certain subtypes of LGMD have additional symptoms. They may include:
Your likelihood of complications depends on several factors, including:
Possible complications include:
Mutations (changes) in the genes that are responsible for healthy muscle structure and function cause limb-girdle muscular dystrophy. The mutations mean that the cells that would normally maintain your muscles can no longer fulfill this role, leading to progressive muscle weakness over time. There are specific gene mutations for each subtype of LGMD.
You can inherit these genetic mutations from your biological parents. There are two major groups of limb-girdle muscular dystrophy based on how you inherit the mutations:
There are several subtypes of limb-girdle muscular dystrophy. Researchers and healthcare providers have a specific naming structure to categorize the different subtypes. It includes “LGMD” in addition to the:
Autosomal recessive subtypes of LGMD include:
Subtype | Previous name | Affected gene | Age of onset | Progression of disease | Additional symptoms |
---|---|---|---|---|---|
LGMD R1 calpain3-related. | LGMD 2A. | CAPN3. | Adolescence. | Moderate to rapid. | |
LGMD R2 dysferlin-related. | LGMD 2B. | DYSF. | Young adulthood. | Slow. | Respiratory issues with early onset. |
LGMD R3 a-sarcoglycan-related. | LGMD 2D. | SGCA. | Early childhood. | Rapid. | Cardiomyopathy. |
LGMD R4 b-sarcoglycan-related. | LGMD 2E. | SGCB. | Early childhood. | Rapid. | Cardiomyopathy. |
LGMD R5 y-sarcoglycan-related. | LGMD 2C. | SGCG. | Early childhood. | Moderate to rapid. | Respiratory issues, hearing loss and cardiomyopathy. |
LGMD R6 d-sarcoglycan-related. | LGMD 2F. | SGCD. | Early childhood. | Rapid. | Cardiomyopathy. |
LGMD R7 telethonin-related. | LGMD 2G. | TCAP. | Adolescence. | Slow. | Cardiomyopathy. |
LGMD R8 TRIM32-related. | LGMD 2H. | TRIM32. | Adulthood. | Slow. | |
LGMD R9 FKRP-related. | LGMD 2I. | FKRP. | Late childhood to adulthood. | Variable. | |
LGMD R10 titin-related. | LGMD 2J. | TTN. | Young adulthood. | Rapid. | |
LGMD R11 POMT1- related. | LGMD 2K | POMT1. | Childhood. | Slow. | Mild intellectual disability. |
LGMD R12 anoctamin5- related. | LGMD 2L. | ANO5. | Young to late adulthood. | Slow. | |
LGMD R13 Fukutin-related. | LGMD 2M. | FKTN. | Early childhood. | Moderate. | Mild intellectual disability. |
LGMD R14 POMT2- related. | LGMD 2N. | POMT2. | Early childhood. | Slow. | Mild intellectual disability. |
LGMD R15 POMGnT1-related. | LGMD 2O. | POMGnT1. | Early to late childhood. | Moderate. | Myopia, glaucoma, cataracts, intellectual disability. |
LGMD R16 a-dystroglycan-related. | LGMD 2P. | DAG1. | Early childhood. | Slow. | Mild intellectual disability. |
LGMD R17 plectin-related. | LGMD 2Q. | PLEC1. | Early childhood. | Moderate. | |
LGMD R18 TRAPPC11- related. | LGMD 2S. | TRAPPC11. | Early to late childhood. | Moderate. | Seizures, mild intellectual disability. |
LGMD R19 GMPPB-related. | LGMD 2T. | GMPPB. | Birth to adulthood. | Slow. | Mild intellectual disability. |
LGMD R20 ISPD-related. | LGMD 2U. | ISPD. | Before age 1. | Moderate. | Myopia, oculomotor apraxia, cerebellar hypoplasia, mild intellectual disability. |
Subtype | |||||
LGMD R1 calpain3-related. | |||||
Previous name | |||||
LGMD 2A. | |||||
Affected gene | |||||
CAPN3. | |||||
Age of onset | |||||
Adolescence. | |||||
Progression of disease | |||||
Moderate to rapid. | |||||
Additional symptoms | |||||
LGMD R2 dysferlin-related. | |||||
Previous name | |||||
LGMD 2B. | |||||
Affected gene | |||||
DYSF. | |||||
Age of onset | |||||
Young adulthood. | |||||
Progression of disease | |||||
Slow. | |||||
Additional symptoms | |||||
Respiratory issues with early onset. | |||||
LGMD R3 a-sarcoglycan-related. | |||||
Previous name | |||||
LGMD 2D. | |||||
Affected gene | |||||
SGCA. | |||||
Age of onset | |||||
Early childhood. | |||||
Progression of disease | |||||
Rapid. | |||||
Additional symptoms | |||||
Cardiomyopathy. | |||||
LGMD R4 b-sarcoglycan-related. | |||||
Previous name | |||||
LGMD 2E. | |||||
Affected gene | |||||
SGCB. | |||||
Age of onset | |||||
Early childhood. | |||||
Progression of disease | |||||
Rapid. | |||||
Additional symptoms | |||||
Cardiomyopathy. | |||||
LGMD R5 y-sarcoglycan-related. | |||||
Previous name | |||||
LGMD 2C. | |||||
Affected gene | |||||
SGCG. | |||||
Age of onset | |||||
Early childhood. | |||||
Progression of disease | |||||
Moderate to rapid. | |||||
Additional symptoms | |||||
Respiratory issues, hearing loss and cardiomyopathy. | |||||
LGMD R6 d-sarcoglycan-related. | |||||
Previous name | |||||
LGMD 2F. | |||||
Affected gene | |||||
SGCD. | |||||
Age of onset | |||||
Early childhood. | |||||
Progression of disease | |||||
Rapid. | |||||
Additional symptoms | |||||
Cardiomyopathy. | |||||
LGMD R7 telethonin-related. | |||||
Previous name | |||||
LGMD 2G. | |||||
Affected gene | |||||
TCAP. | |||||
Age of onset | |||||
Adolescence. | |||||
Progression of disease | |||||
Slow. | |||||
Additional symptoms | |||||
Cardiomyopathy. | |||||
LGMD R8 TRIM32-related. | |||||
Previous name | |||||
LGMD 2H. | |||||
Affected gene | |||||
TRIM32. | |||||
Age of onset | |||||
Adulthood. | |||||
Progression of disease | |||||
Slow. | |||||
Additional symptoms | |||||
LGMD R9 FKRP-related. | |||||
Previous name | |||||
LGMD 2I. | |||||
Affected gene | |||||
FKRP. | |||||
Age of onset | |||||
Late childhood to adulthood. | |||||
Progression of disease | |||||
Variable. | |||||
Additional symptoms | |||||
LGMD R10 titin-related. | |||||
Previous name | |||||
LGMD 2J. | |||||
Affected gene | |||||
TTN. | |||||
Age of onset | |||||
Young adulthood. | |||||
Progression of disease | |||||
Rapid. | |||||
Additional symptoms | |||||
LGMD R11 POMT1- related. | |||||
Previous name | |||||
LGMD 2K | |||||
Affected gene | |||||
POMT1. | |||||
Age of onset | |||||
Childhood. | |||||
Progression of disease | |||||
Slow. | |||||
Additional symptoms | |||||
Mild intellectual disability. | |||||
LGMD R12 anoctamin5- related. | |||||
Previous name | |||||
LGMD 2L. | |||||
Affected gene | |||||
ANO5. | |||||
Age of onset | |||||
Young to late adulthood. | |||||
Progression of disease | |||||
Slow. | |||||
Additional symptoms | |||||
LGMD R13 Fukutin-related. | |||||
Previous name | |||||
LGMD 2M. | |||||
Affected gene | |||||
FKTN. | |||||
Age of onset | |||||
Early childhood. | |||||
Progression of disease | |||||
Moderate. | |||||
Additional symptoms | |||||
Mild intellectual disability. | |||||
LGMD R14 POMT2- related. | |||||
Previous name | |||||
LGMD 2N. | |||||
Affected gene | |||||
POMT2. | |||||
Age of onset | |||||
Early childhood. | |||||
Progression of disease | |||||
Slow. | |||||
Additional symptoms | |||||
Mild intellectual disability. | |||||
LGMD R15 POMGnT1-related. | |||||
Previous name | |||||
LGMD 2O. | |||||
Affected gene | |||||
POMGnT1. | |||||
Age of onset | |||||
Early to late childhood. | |||||
Progression of disease | |||||
Moderate. | |||||
Additional symptoms | |||||
Myopia, glaucoma, cataracts, intellectual disability. | |||||
LGMD R16 a-dystroglycan-related. | |||||
Previous name | |||||
LGMD 2P. | |||||
Affected gene | |||||
DAG1. | |||||
Age of onset | |||||
Early childhood. | |||||
Progression of disease | |||||
Slow. | |||||
Additional symptoms | |||||
Mild intellectual disability. | |||||
LGMD R17 plectin-related. | |||||
Previous name | |||||
LGMD 2Q. | |||||
Affected gene | |||||
PLEC1. | |||||
Age of onset | |||||
Early childhood. | |||||
Progression of disease | |||||
Moderate. | |||||
Additional symptoms | |||||
LGMD R18 TRAPPC11- related. | |||||
Previous name | |||||
LGMD 2S. | |||||
Affected gene | |||||
TRAPPC11. | |||||
Age of onset | |||||
Early to late childhood. | |||||
Progression of disease | |||||
Moderate. | |||||
Additional symptoms | |||||
Seizures, mild intellectual disability. | |||||
LGMD R19 GMPPB-related. | |||||
Previous name | |||||
LGMD 2T. | |||||
Affected gene | |||||
GMPPB. | |||||
Age of onset | |||||
Birth to adulthood. | |||||
Progression of disease | |||||
Slow. | |||||
Additional symptoms | |||||
Mild intellectual disability. | |||||
LGMD R20 ISPD-related. | |||||
Previous name | |||||
LGMD 2U. | |||||
Affected gene | |||||
ISPD. | |||||
Age of onset | |||||
Before age 1. | |||||
Progression of disease | |||||
Moderate. | |||||
Additional symptoms | |||||
Myopia, oculomotor apraxia, cerebellar hypoplasia, mild intellectual disability. |
Autosomal dominant subtypes of LGMD include:
Subtype | Previous name | Affected gene | Age of onset | Progression of disease | Additional symptoms |
---|---|---|---|---|---|
LGMD D1 DNAJB6- related. | LGMD 1D. | DNAJB6. | Childhood to late adulthood. | Slow. | |
LGMD D2 TNP03- related. | LGMD 1F. | TNP03. | Young childhood to adulthood. | Rapid in cases of younger onset. | Respiratory issues in cases of younger onset. |
LGMD D3 HNRNPDL-related. | LGMD 1G. | HNRNPDL. | Adolescence to adulthood. | Slow. | Cataracts. |
Subtype | |||||
LGMD D1 DNAJB6- related. | |||||
Previous name | |||||
LGMD 1D. | |||||
Affected gene | |||||
DNAJB6. | |||||
Age of onset | |||||
Childhood to late adulthood. | |||||
Progression of disease | |||||
Slow. | |||||
Additional symptoms | |||||
LGMD D2 TNP03- related. | |||||
Previous name | |||||
LGMD 1F. | |||||
Affected gene | |||||
TNP03. | |||||
Age of onset | |||||
Young childhood to adulthood. | |||||
Progression of disease | |||||
Rapid in cases of younger onset. | |||||
Additional symptoms | |||||
Respiratory issues in cases of younger onset. | |||||
LGMD D3 HNRNPDL-related. | |||||
Previous name | |||||
LGMD 1G. | |||||
Affected gene | |||||
HNRNPDL. | |||||
Age of onset | |||||
Adolescence to adulthood. | |||||
Progression of disease | |||||
Slow. | |||||
Additional symptoms | |||||
Cataracts. |
If you or your child has symptoms of limb-girdle muscular dystrophy, your healthcare provider will likely do a physical exam, neurological exam and muscle exam. They’ll ask detailed questions about your symptoms and medical history.
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If they suspect you or your child has LGMD, they may recommend any of the following diagnostic tests:
If you or your child have LGMD, your provider will likely also recommend heart and pulmonary (lung) function tests to see if the condition has affected those aspects of your health
There’s currently no cure for limb-girdle muscular dystrophy, though researchers are actively looking for one.
The main goal of treatment is to manage symptoms and improve your quality of life. Treatments can vary depending on the type of LGMD and may include:
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You or your child will likely have a team of healthcare providers to manage LGMD. Experts may include:
As limb-girdle muscular dystrophy is a genetic condition, there’s nothing you can do currently to prevent it.
If you’re concerned about the risk of passing on LGMD or other genetic conditions before trying to have a biological child, talk to your healthcare provider about genetic counseling.
If you have LGMD, there are steps you can take to try to prevent or delay complications and improve your quality of life, including:
It’s difficult for researchers and healthcare providers to predict the prognosis (outlook) of LGMDs with certainty. Your healthcare team will provide as much insight as possible about what to expect while you’re in their care.
In general, when LGMD begins in childhood, the progression of the condition is usually faster, and it results in more complications. When LGMD begins in adolescence or adulthood, it’s generally not as severe and progresses more slowly.
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The average life expectancy of someone with LGMD depends largely on the subtype and how rapidly it progresses. In general, people with LGMD who develop heart and breathing issues typically have shorter lifespans than people with LGMD who don’t have these complications.
If you have limb-girdle muscular dystrophy or you’re taking care of someone with it, it’s important to advocate for yourself/them to ensure you/they get the best medical care and as much access to therapy as possible. Advocating for care can help you/them have the best possible quality of life.
You and your family may also want to consider joining a support group to meet others who can relate to your experiences.
If you have limb-girdle muscular dystrophy, you’ll need to see your team of healthcare providers regularly to receive treatment and monitor your symptoms.
Understanding your limb-girdle muscular dystrophy (LGMD)diagnosis can be overwhelming. Your healthcare team will offer a robust management plan that’s unique to your symptoms. It’s important to make sure you’re getting the support you need and stay attentive to your health. Know that your healthcare team will be there to support you and your family.
Last reviewed on 12/12/2023.
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