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Limb-girdle muscular dystrophy (LGMD) is a group of rare progressive genetic disorders that cause muscle weakness and wasting (atrophy) in the arms and legs. LGMD usually manifests in the proximal muscles around the hips and shoulders, with weakness in the hip girdle often appearing first and causing difficulty in walking and climbing stairs. The unifying features of the LGMD subtypes are the weakness and atrophy of the limb-girdle muscles, although the age at which symptoms appear, the speed and severity of disease progression, and the specific muscles affected can vary. LGMD is caused by mutations in genes that encode proteins vital to muscle function, regulation, and repair.
| Characteristics | Values |
|---|---|
| Definition | Limb-girdle muscular dystrophy (LGMD) is a diverse group of disorders with many subtypes categorized by disease gene and inheritance. |
| Muscle Groups Affected | Proximal muscles around the hips, shoulders, upper arms, pelvic area, thighs, and torso. |
| Symptoms | Muscle weakness and atrophy, scoliosis, lordosis, contractures, hypertrophy of the calf muscle, joint stiffness, muscle cramps, and enlargement of calf muscles. |
| Diagnosis | Muscle biopsy, genetic testing, MRI, EMG, and electrocardiography. |
| Prevalence | 0.8-6.9 in every 100,000 individuals worldwide, with a minimum prevalence of 2.27-10 per 100,000. |
| Treatment | No known treatments to reverse muscle weakness; physical therapy, corticosteroids, and gene therapy may be used to manage symptoms. |
| Prognosis | LGMD is not typically fatal, but it may weaken the heart and respiratory muscles, leading to secondary disorders. |
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What You'll Learn
- Limb-girdle muscular dystrophy (LGMD) is a group of rare progressive genetic disorders
- LGMD subtypes are categorised by disease gene and inheritance
- LGMD causes weakness and atrophy of the muscles closest to the body
- LGMD is not typically fatal, but it may weaken the heart and respiratory muscles
- There is no known cure for LGMD, but physical therapy may help maintain muscle strength
Limb-girdle muscular dystrophy (LGMD) is a group of rare progressive genetic disorders
The unifying features of LGMDs are the weakness and atrophy of the limb-girdle muscles. However, the age at which symptoms appear, and the speed and severity of disease progression, can vary. Individuals may first notice a problem when they develop a “waddling” gait due to weakness in the hip and leg muscles. They may also experience difficulty with activities such as getting out of chairs, climbing stairs, or squatting. As the disease progresses, individuals may require assistive mobility devices, and tasks such as reaching overhead or carrying objects may become challenging.
LGMD is a genetically heterogeneous group of disorders, with many subtypes categorized by disease gene and inheritance patterns. The various forms of LGMD are caused by mutations in many different genes, and most forms have an autosomal inheritance pattern, which can be dominant or recessive. In some cases, rare forms of LGMD are inherited in an autosomal dominant pattern, meaning that a mutation in a single copy of the gene in each cell is sufficient to cause the disorder. While LGMD is not typically fatal, it can lead to serious disability, and in some cases, it may affect the heart and respiratory muscles, causing illness or death due to secondary disorders.
The diagnosis of LGMD can be challenging and typically involves multiple tests, including muscle biopsy, genetic testing, MRI, EMG, and electrocardiography. Treatment options are limited, and currently, there is no known cure for LGMD. However, researchers are exploring various treatments, including gene therapy, which holds promise for delivering healthy genetic material into cells. Physical therapy and careful management of lung and heart health are also important components of care for individuals with LGMD.
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LGMD subtypes are categorised by disease gene and inheritance
Limb-girdle muscular dystrophy (LGMD) is a group of disorders with many subtypes. These subtypes are categorised by disease gene and inheritance. LGMD usually manifests in the proximal muscles around the hips and shoulders. The shoulder girdle is the bony structure that surrounds the shoulder area, and the pelvic girdle is the bony structure surrounding the hips. Collectively, these are called the limb girdles. LGMD is characterised by the observed weakness and atrophy (wasting) of the muscles connected to the limb girdles.
The unifying features of the LGMD subtypes are the weakness and atrophy of the limb-girdle muscles. However, the age at which symptoms appear, and the speed and severity of disease progression, can vary. The severity, age of onset, and features of limb-girdle muscle dystrophy vary among the many subtypes of this condition and may be inconsistent even within the same family.
LGMD subtypes are traditionally called LGMD1 and LGMD2, classified by their respective inheritance patterns: autosomal dominant and autosomal recessive. If one copy of the abnormal gene is sufficient to cause the disease, it is said to be autosomal dominant; if two copies are needed, then the inheritance pattern is autosomal recessive. LGMD1D, LGMD1E, LGMD1F, LGMD1G, and LGMD1H are some examples of subtypes with an autosomal dominant inheritance pattern. The other ~90% of people with LGMD have subtype 2, which has an autosomal recessive pattern—meaning they inherited the gene mutation from both parents. These subtypes generally show symptoms earlier in life (childhood to young adulthood) and are associated with moderate to severe muscle weakness.
The subtypes are also sometimes referred to by the gene or protein abnormality involved. For example, LGMD2E is also called beta-sarcoglycanopathy because it results from a mutation of the beta-sarcoglycan gene. An autosomal dominant subtype, LGMD1A is characterised by weakness of the shoulder, upper arm, and hip muscles. LGMD subtypes are also classified by letters and numbers that indicate which gene is known or suspected to be involved and whether the disorder is inherited as a dominant or recessive condition.
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LGMD causes weakness and atrophy of the muscles closest to the body
Limb-girdle muscular dystrophy (LGMD) is a group of rare progressive genetic disorders that cause weakness and atrophy of the muscles closest to the body, also known as proximal muscles. These include the muscles of the hips, pelvic area, thighs, shoulders, and upper arms. LGMD is characterised by progressive muscle weakness, which means that the weakness of the muscles close to the torso worsens over time.
The unifying feature of the various subtypes of LGMD is the weakness and atrophy of the limb-girdle muscles. However, the age at which symptoms appear and the speed and severity of disease progression can vary greatly, even among individuals in the same family. LGMD usually affects the muscles of the hip and pelvic area first, causing difficulty in standing from a sitting position, walking upstairs, or squatting. As a result, affected individuals may develop a distinctive waddling gait.
As the disorder progresses, muscle weakness spreads to the muscles of the upper arms and shoulders. This can lead to difficulties in raising the arms over the head or carrying heavy objects. Eventually, the ability to run and walk can deteriorate, and the person may become dependent on a wheelchair.
In some cases, LGMD can also affect the heart and respiratory muscles, leading to mild to severe breathing problems. Heart defects such as conduction abnormalities and dilated cardiomyopathy may occur, increasing the risk of palpitations, fainting, and sudden death. LGMD is typically caused by mutations in various genes that encode proteins vital for muscle function, regulation, and repair. While it is not usually a fatal disease, it can lead to illness or death due to secondary disorders.
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LGMD is not typically fatal, but it may weaken the heart and respiratory muscles
Limb-girdle muscular dystrophy (LGMD) is a group of disorders with many subtypes categorized by disease gene and inheritance. LGMD usually manifests in the proximal muscles around the hips and shoulders. The unifying features of the LGMDs are the weakness and atrophy of the limb-girdle muscles.
Some individuals with LGMD experience mild to severe breathing problems related to the weakness of the muscles needed for breathing. In some cases, breathing problems are severe enough that affected individuals need to use a machine to help them breathe (mechanical ventilation). LGMD can weaken the diaphragm, the muscle that pumps air in and out of the lungs. When weakened, the diaphragm only partially pumps air in and out of the lungs and does not properly flush out carbon dioxide during the night. This can cause apnea or shallow breathing, which will lower the level of oxygen and increase the level of carbon dioxide in the blood.
Heart abnormalities are not associated with all LGMD subtypes. However, it is important to monitor cardiac function regularly. Early detection of cardiomyopathy is important as the institution of cardioprotective medical therapies may slow adverse cardiac remodeling and attenuate heart failure symptoms in these patients.
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There is no known cure for LGMD, but physical therapy may help maintain muscle strength
Limb-girdle muscular dystrophy (LGMD) is a collection of more than 20 rare neuromuscular diseases that develop gradually and are clinically diverse. LGMD usually manifests in the proximal muscles around the hips and shoulders, and the condition is characterised by weakness and atrophy (wasting) of the limb-girdle muscles. The unifying features of the LGMDs are the weakness and atrophy of the muscles closest to the torso, but the age at which symptoms appear, and the speed and severity of disease progression, can vary.
There is currently no cure for LGMD, and no effective pharmacologic therapy. Patients must therefore rely on symptomatic care, in which ongoing physical therapy is essential. The primary goals of physical therapy are to allow greater motion in the joints and to prevent contractures. These problems can arise when movement is limited, so it is important for patients to continue to move as much as they can.
Physical therapy can help to maintain as much muscle strength and joint flexibility as possible. It can also help patients maintain their general physical function and muscular strength and flexibility, playing a significant role in controlling LGMD. Improved functional capacity for everyday duties, increased muscle strength, and improved cardiovascular health are all goals of treating calpaniopathy. Even those with chronic diseases can benefit from exercise in terms of mood and mental health.
However, it is important to note that certain kinds of stress-causing exercises may hasten muscle damage. Patients with muscular dystrophy should maintain adequate hydration, avoid supramaximal, high-intensity exercise, and avoid exercising to exhaustion. Some experts recommend swimming and water exercises as a good way to keep muscles toned without causing undue stress. The buoyancy of the water helps protect against certain kinds of muscle strain and injury. Before undertaking any new exercise routines, patients should consult a physical therapist.
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Frequently asked questions
LGMD is a group of rare progressive genetic disorders that cause weakness and wasting of the muscles in the arms and legs. LGMD usually manifests in the proximal muscles around the hips and shoulders.
The unifying features of the LGMDs are the weakness and atrophy of the limb-girdle muscles. Some individuals may first notice a problem when they begin to walk with a “waddling” gait because of weakness of the hip and leg muscles. They may have trouble getting out of chairs, rising from a toilet seat, or climbing stairs. As this weakness progresses, the person may require the use of assistive mobility devices.
LGMD is a genetic and heritable disorder, due to one of many genetic mutations of proteins involved in muscle function. All currently identified LGMDs have an inheritance pattern that is dominant or recessive, although the definition of LGMD allows for diseases with more complicated inheritance patterns to be classified as LGMD.
There are no known treatments that reverse the muscle weakness caused by LGMD. Supportive treatment can be provided to decrease the complications of the disease and manage symptoms. Physical therapy may be required to maintain as much muscle strength and joint flexibility as possible.
