Limb-girdle muscular dystrophy (LGMD) is a genetic condition that causes progressive muscle weakness, mainly in the muscles around the shoulders and hips. This form of muscular dystrophy isn’t as well-known as Duchenne muscular dystrophy (DMD) or Becker muscular dystrophy (BMD). However, it’s the fourth most common cause of muscle weakness related to genetics, affecting about 2 in every 100,000 people.

If you or a loved one has been diagnosed with LGMD, you may have questions like, “Can you walk with limb-girdle muscular dystrophy?” and “How fast does it progress?” This article covers LGMD symptoms, its typical progression, and available treatment options.

What Is Limb-Girdle Muscular Dystrophy?

LGMD refers to muscular dystrophy that affects the muscles surrounding the hips and shoulders. The term “limb-girdle” refers to bony structures that support the arms and legs, called limb girdles. LGMD primarily weakens the proximal muscles — those closest to the body’s center — while the distal muscles (those in the hands, feet, lower arms, and lower legs) are usually not affected.

This condition can begin at any age, though it most often develops in adulthood, with some forms appearing as late as a person’s 70s or 80s​. It affects people of all genders equally.

What Causes Limb-Girdle Muscular Dystrophy?

LGMD is caused by a mutation (change) in a gene that provides instructions for making a protein essential for muscle function. These genetic mutations primarily affect the muscles around the hips and shoulders, leading to weakness over time​.

Different genetic mutations affect different proteins that muscles need to work properly. In many cases, LGMD affects proteins in the muscle cell membrane, the protective layer surrounding each muscle cell. When these proteins are missing or faulty, the membrane becomes less effective at protecting muscles during movement. Over time, repeated muscle damage leads to progressive muscle weakness and muscle atrophy (wasting)​.

Types of Limb-Girdle Muscular Dystrophy

There are 33 different forms of LGMD. These subtypes are grouped based on how they’re inherited (passed down from parent to child) and which protein is affected by the genetic mutation. Researchers use a letter-number naming system, where the number refers to how it’s inherited and the letter identifies the specific gene or protein involved.

Type 1 LGMDs (LGMD1) are inherited through an autosomal dominant inheritance pattern. Autosomal refers to the fact that the genetic mutation isn’t on a sex chromosome. A dominant mutation requires only one copy of the faulty gene — inherited from one parent — to cause LGMD1.

Type 2 LGMDs (LGMD2) are inherited through an autosomal recessive inheritance pattern. This means two copies of the faulty gene — one from each parent — are needed for the disease to develop. Parents may not have symptoms but can be carriers, meaning they carry the mutation without having the condition​.

The letter in the LGMD subtype represents the specific protein or gene that’s affected by the mutation. The most common subtypes of LGMD include LGMD2A and LGMD2B.

This naming system for LGMD was recently updated. In the new naming system:

• “D” (dominant) or “R” (recessive) indicate inheritance pattern.
• A number reflects the order in which the subtype was discovered.
• The affected protein name is added at the end.

For example, in the new naming system, LGMD2A is called LGMD R1 calpain3-related and LGMD2B is called LGMD R2 dysferlin-related.

What Are the Signs and Symptoms of Limb-Girdle Muscular Dystrophy?

The symptoms of LGMD vary depending on the specific subtype and which muscles are affected. Even within the same family, people with the same form of LGMD can experience different symptoms.

LGMD also progresses at different rates based on the subtype. LGMD2A can progress rapidly or at a more moderate pace, depending on the person. It typically shows fewer dystrophic features (degenerating and regenerating muscle fibers) but more chronic changes over time.

On the other hand, LGMD2B usually progresses more slowly.

Muscle Weakness

Childhood-onset LGMD (LGMD that begins in childhood) most often affects the muscles around the hips and upper legs, known as the pelvic girdle. Weakness in these muscles can cause symptoms such as:

• Waddling gait (a side-to-side walking pattern)
• Gowers’ sign (using hands to push off the legs when standing up from sitting)
• Trouble climbing stairs
• Frequent falls

Adult-onset LGMD usually affects both the shoulder girdle and the pelvic girdle, leading to leg and shoulder weakness. Symptoms of weakness in the shoulders may include difficulty with:

• Reaching above the head
• Holding arms straight out
• Carrying heavy objects
• Brushing the hair
• Eating
• Working on a computer

Most people with LGMD don’t have symptoms that involve the muscles of the eyes, face, hands, or feet. Additionally, most types of LGMD aren’t associated with changes in the brain function, senses, or intellect. However, intellectual disability has been reported in LGMD2K and LGMD2N​.

Heart and Breathing Symptoms

Some types of LGMD can affect the heart and breathing muscles. However, heart problems are less common in LGMD compared to other types of muscular dystrophy. When the heart is involved, it can lead to cardiomyopathy (weakening of the heart muscle) or heart arrhythmia (abnormal heart rhythm).

Eventually, heart problems from LGMD can lead to heart failure, which may cause symptoms, such as:

• Shortness of breath that worsens when lying down flat
• Decreased ability to exercise
• Fatigue (extreme tiredness that doesn’t improve with sleep)
• Swelling in the lower legs and feet
• Persistent cough
• Rapid heart rate

Some types of LGMD can affect the respiratory (breathing) muscles, leading to:

• Respiratory failure — When the body has too little oxygen or too much carbon dioxide in the blood.
• Sleep-disordered breathing — Difficulty breathing during sleep, which can cause frequent waking, morning headaches, or daytime sleepiness​

Signs of LGMD in Laboratory Tests

Doctors use several tests to help diagnose LGMD, including blood tests, genetic testing, and muscle biopsies.

Creatine Kinase Blood Test

Creatine kinase (CK) is an enzyme (a special type of protein) normally found inside muscle cells. When muscles are damaged, CK leaks into the bloodstream, leading to high CK levels. A CK blood test can help healthcare providers determine whether muscle damage is contributing to symptoms of weakness​.

Genetic Testing

Genetic testing analyzes a sample of blood, saliva, or skin to look for genetic changes that can cause LGMD. In many cases, this test can confirm the exact subtype of LGMD.

Muscle Biopsy

If genetic testing does not provide a clear diagnosis, doctors may order a muscle biopsy. This procedure involves removing a small sample of muscle tissue to examine under a microscope. A pathologist (a doctor who specializes in analyzing tissues) looks for signs of LGMD, such as changes in muscle fiber structure or missing proteins​.

Limb-Girdle Muscular Dystrophy Treatment

Currently, no treatments can stop or reverse the progression of LGMD. However, treatment plans are tailored to each person’s symptoms and goals, such as:

• Maintaining mobility and independence
• Preventing complications
• Improving quality of life

Current Treatment Options

Your treatment plan may include:

• Assistive devices — Tools that make daily life easier, such as a long-handled reacher, cane, or wheelchair
• Physical therapy — Exercises to help strengthen muscles and maintain mobility
• Occupational therapy — Strategies to make daily tasks easier
• Heart treatments — Medications or a pacemaker to manage heart-related symptoms
• Respiratory care — Treatments to support lung function if breathing muscles are affected

Emerging Treatments

Researchers are exploring gene therapy, which aims to deliver a working copy of the affected gene to muscle cells. Some clinical trials are testing this approach, along with other potential treatments. Ask your healthcare team about available clinical trials and experimental therapies​.

What Is the Life Expectancy of People With Limb-Girdle Muscular Dystrophy?

Life expectancy with LGMD varies depending on the specific subtype and how quickly symptoms progress​.

In general, most people with LGMD live to adulthood. However, progressive muscle loss over 20 to 30 years may lead to needing a wheelchair to get around. If the heart and respiratory muscles aren’t affected, life expectancy may be close to normal. However, heart or lung problems related to LGMD can shorten life expectancy, depending on their severity.

Talk to Your Doctor

If you or a loved one has LGMD, regular checkups with your doctor are essential for managing symptoms and maintaining the best possible quality of life. Since LGMD affects people differently, staying in close communication with your healthcare team can help you track changes in mobility, heart health, and breathing function. Your doctor can also discuss treatment options that meet your treatment goals. By working together with your healthcare provider, you can create a care plan that supports your long-term health and independence.

Find Your Team

On myMDteam, the site for people with muscular dystrophy and their loved ones, people come together to gain a new understanding of muscular dystrophy and share their stories with others who understand life with the condition.

Do you or a loved one have limb-girdle muscular dystrophy? What treatments have helped you manage the disease? Share your experiences in the comments below, post to your Activities page, or connect with like-minded members in Groups.