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Limb-Girdle Muscular Dystrophy (LGMD)

Limb-Girdle Muscular Dystrophy (LGMD)



Overview

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.

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.

Symptoms

The main symptoms of limb-girdle muscular dystrophy are muscle weakness and atrophy (loss) in the following areas:

Shoulders.

Upper arms.

Hips.

Upper legs.

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:

A waddling gait (walking pattern).

Difficulty rising from a seated position (like from a chair or toilet).

Difficulty climbing stairs.

Specific symptoms related to shoulder and upper arm muscle weakness include difficulty with:

Reaching over your head.

Holding your arms outstretched.

Carrying heavy objects.

Feeding yourself.

Certain subtypes of LGMD have additional symptoms. They may include:

Heart issues, like cardiomyopathy, conduction abnormalities or arrhythmias.

Difficulty breathing.

Difficulty swallowing (dysphagia).

Joint stiffness (contractures).

Muscle cramps.

Enlarged calf muscles (hypertrophy).

Weakness in more distant (distal) muscles, like those in your hands and feet.

Complications of limb-girdle muscular dystrophy

Your likelihood of complications depends on several factors, including:

The subtype of LGMD you have.

The age of onset and how quickly the condition is progressing.

Your access to thorough medical care and symptom management.

Possible complications include:

Developmental delays in gross motor skills (like walking) in early-onset LGMDs.

Intellectual disability and learning differences.

Kyphosis and/or scoliosis — mainly in childhood-onset LGMD.

Restrictive lung disease leading to respiratory insufficiency or respiratory failure.

Malnutrition due to issues with eating and swallowing.

Causes

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:

The LGMD D group: These LGMDs happen due to autosomal dominant inheritance patterns. This means you only need to inherit the mutated gene from one of your biological parents to develop the condition.

The LGMD R group: These LGMDs happen due to autosomal recessive inheritance patterns. This means you’ve inherited a genetic mutation that causes the condition from both of your biological parents.

Types of limb-girdle muscular dystrophy

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:

Type of inheritance: “D” stands for autosomal dominant inheritance. “R” stands for autosomal recessive inheritance.

Order of discovery: Each subtype has a number based on the order in which researchers discovered it.

Protein or gene that’s affected: This is represented by “[name of gene or protein]-related.”

Diagnosis

f 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.

If they suspect you or your child has LGMD, they may recommend any of the following diagnostic tests:

Creatine kinase blood test: Your muscles release creatine kinase when they’re damaged, so elevated levels may indicate muscular dystrophy.

Genetic tests: Genetic tests can identify gene mutations that are linked to certain subtypes of LGMD. This is the only test that can confirm the specific subtype.

Muscle biopsy: Your provider may take a small sample of your muscle tissue. A specialist will then look at the sample under a microscope to look for signs of muscular dystrophy.

Electromyography (EMG): This test measures the electrical activity of your muscles and nerves.

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

Treatment

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:

Physical and occupational therapies: The main goal of these therapies is to strengthen and stretch your muscles. They can help you maintain movement function and find easier ways to do everyday tasks.

Corticosteroids: Corticosteroids, such as prednisolone and deflazacort, may be beneficial for delaying muscle weakness, improving lung function, delaying scoliosis and slowing the progression of cardiomyopathy. Corticosteroids may only be beneficial for a few subtypes of LGMD, especially LGMD R9 FKRP-related.

Mobility aids: Devices such as canes, braces, walkers and wheelchairs can improve your mobility and help prevent falls. They can also help reduce fatigue.

Surgery: Some people with LGMD may need surgery to relieve tension on contracted muscles and to correct spine curvature (scoliosis).

Respiratory care: Cough-assist devices and respirators can help with breathing. Tracheostomy and assisted ventilation may be necessary in cases of respiratory failure.

Heart care: Early treatment with ACE inhibitors and/or beta-blockers may slow the progression of cardiomyopathy and prevent the onset of heart failure. Pacemakers can also help treat heart rhythm problems and heart failure.

Speech therapy: This therapy can help if you have difficulty swallowing.

Clinical trials: Depending on the type of LGMD you have and where you live, you may be able to participate in a clinical trial. An increasing number of clinical trials are currently active for LGMD. Examples of recent studies include deflazacort in people with LGMD R9 FKRP-related and AAV1 gamma-sarcoglycan gene therapy for people with LGMD R5 gamma sarcoglycan-related.

You or your child will likely have a team of healthcare providers to manage LGMD. Experts may include:

Type of Doctor Department :Neurologist

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