Limb girdle muscular dystrophy

Limb girdle muscular dystrophies (LGMD) are rare conditions. They present differently in everyone they affect, even those in the same family.

LGMD causes weakness in the shoulder and pelvic girdle which includes the big muscles around the top (proximal) part of the arms and legs (hips, thigh and shoulder muscles).

Symptoms of limb girdle muscular dystrophy

You’ll normally notice muscle weakness in the legs before the arms. The muscles of the face are rarely affected.

These symptoms can cause:

frequent falls
difficulty running
difficulty climbing stairs
difficulty getting up from the floor
problems raising your arms above your head
difficulty lifting objects

You might eventually experience problems walking and need a walking aid or wheelchair.

Sometimes, the heart and breathing muscles can be affected depending on the type of LGMD you have. You should have regular check ups for your heart and breathing function to identify any changes.

The specific type of limb-girdle MD will determine how quickly it’ll progress. Some types develop rapidly and others will get worse slowly.

Causes of limb girdle muscular dystrophy

Genetic mutations cause limb girdle MD. When someone has a mutation in a LGMD gene, the muscles cannot work properly and it causes the muscles to weaken.

A blood test or muscle biopsy might be used to diagnose the cause of LGMD.

Diagnosis of limb girdle muscular dystrophy

It’s likely your symptoms, family and medical history will be reviewed to help diagnose LGMD.

Family history

Your family history can help to find out where you might have inherited LGMD from. It’ll also help to determine whether you have the autosomal dominant or autosomal recessive form of LGMD.

Physical exam

A physical exam including a neurological evaluation and muscle strength test can help identify which muscles are affected. This might help determine which form of muscular dystrophy you have.

Blood test

A blood test might show an increased level of creatine kinase (CK) which might suggest there’s a problem in the muscles. CK is a muscle enzyme.

Electromyography (EMG) and muscle MRI

An electromyography (EMG) is a test to measure the muscle’s response to stimulation of its nerve supply and the electrical activity in the muscle. The MRI will show the pattern of muscles involved and can sometimes identify the type of LGMD you have.

Muscle biopsy

Although the other tests can suggest LGMD as a likely diagnosis, sometimes a muscle biopsy can identify what kind of LGMD you have. It’s possible to identify the proteins which might be low or missing in different types of LGMD.

Genetic test

Unfortunately sometimes a muscle biopsy alone is not enough to distinguish between the exact types of LGMD. If this is the case, genetic tests (a blood test) might be needed to confirm an exact diagnosis.

According to Muscular Dystrophy UK, 1 in 4 LGMD patients are not able to be given an exact diagnosis, even with all available testing.

Treatment of limb girdle muscular dystrophy

There’s no cure for LGMD. There are supportive treatments that can help you manage your symptoms.

Finding out which type of LGMD can be helpful for planning your treatment.

Regular exercise can help to maintain muscle function for as long as possible.

Try to eat a healthy balanced diet and maintain a healthy weight. This will help to reduce stress on already weakened muscles.

Your breathing and heart function should be tested and monitored regularly to make sure any problems are identified. Identifying problems with breathing or your heart function early means treatment can be started as early as possible which can be life-saving.