September 30th is Limb-Girdle Muscular Dystrophy Awareness Day

By: Lenika De Simone and Vera Shively

Limb-girdle muscular dystrophy (LGMD) comprises a group of rare, inherited (genetic) disorders which lead to progressive weakness and wasting away of muscle tissue. The muscles that support the shoulders and hips - the limb girdle- are affected first, but other muscles may become weaker, too. It is difficult to know exactly how many people are affected by LGMD because its signs and symptoms vary, and they overlap with those of other muscle disorders. Even though people with LGMD and their families work year-round to raise awareness, September 30th is recognized globally as Limb-Girdle Muscular Dystrophy Awareness Day. The goal is that increased awareness and advocacy for those affected by LGMD will lead to earlier diagnosis as well as improved access to care and treatment.  

Causes of LGMD

There are over 30 sub-types of LGMD, each of which is caused by a pathogenic variant (sometimes called a mutation) in a different gene. These genes provide instructions for making proteins that are involved in proper muscle function, maintenance and repair. The presence of a pathogenic variant means the instructions for making one of these important proteins have an error. This may lead to a protein that doesn’t work properly or the amount of the protein produced isn’t enough for the job it must do. These can impact: 

• How muscles contract and relax
• How muscle cells repair after damage 
• How muscle cells communicate with other cells 
• How toxic wastes are removed from muscles 

What are the signs and symptoms of LGMD?

The hallmark of LGMD is progressive weakness, often starting with the muscles that support the shoulders, hips and legs. Early signs may include difficulty rising from a seated position or climbing stairs, or frequent falls. Shoulder girdle involvement may lead to trouble lifting the arms overhead, carrying objects, or performing tasks like combing your hair.

In addition, some LGMD sub-types can involve heart (cardiac) muscle, and the muscles used for breathing. Other possible features include joint stiffness (contractures), muscle cramps, calf muscle enlargement (hypertrophy), and, in certain sub-types, muscle involvement affecting the hands and feet. 

How is LGMD diagnosed?

Diagnosing LGMD begins with a detailed medical and family history alongside a physical exam to note the pattern of muscle weakness. A key laboratory test measures creatine kinase (CK) levels in the blood. CK is a type of protein that’s mainly found in skeletal and cardiac muscle. CK leaks into the blood stream when muscles are damaged, although elevated CK levels do not pinpoint the exact disorder. Electromyography (EMG) can help distinguish whether weakness originates in the muscle or the nerve controlling it. In some cases, a muscle biopsy may be performed. This involves examining a small muscle sample under the microscope and testing for the presence and distribution of key muscle proteins.

Today, genetic testing has become central to LGMD diagnosis. Genetic material (DNA) is isolated from blood samples and analyzed for pathogenic variants in genes known to be associated with LGMD. Further, a diagnostic tool called next-generation sequencing (NGS) can screen dozens of LGMD-related genes at one time. 

How is LGMD treated?

There is no cure for LGMD, so treatment and management focus on maintaining mobility, independence, and quality of life through multidisciplinary care. Physical therapy aims to preserve joint flexibility and prevent contractures, while occupational therapy addresses daily living tasks by recommending adaptive equipment and techniques. 

Assistive devices, from canes and long-handled reachers to power wheelchairs, support mobility and reduce fatigue. Regular cardiac assessments (echocardiography, ECG) and lung (pulmonary) evaluations guide interventions like medications, pacemakers, or breathing assistance. Nutritional support may be needed for those with swallowing difficulties or unintended weight loss, and dietary counseling can help manage healthy weight to reduce stress on weakened muscles. Ongoing research into gene therapies and other disease-modifying treatments offers hope for improved treatment options in the future. 

Care for LGMD at Lurie Children’s

Our team in the Muscular Dystrophy Association (MDA) Clinic provides multidisciplinary care for children and families with LGMD. Our specialized clinic allows for a patient to see multiple specialists in one visit to create an individualized treatment plan. Specialists that are available during clinic include a neurologist, a pulmonologist, a cardiologist, a genetic counselor, physical and occupational therapists, a metabolic bone health pediatric nurse practitioner, a social worker, an orthotist, and a clinical nutritionist. We offer enrollment in a natural history study and aim to provide families with information on the treatment landscape and available clinical trials for LGMD that are appropriate.  

Additional Resources: 

• LGMD Awareness Foundation
• Muscular Dystrophy Association  
• Clinical Trials Database - Enter “Limb Girdle Muscular Dystrophy” in the condition/disease field

Search our blog Search

---