Limb girdle muscular dystrophy

Limb girdle muscular dystrophies (LGMD) are rare conditions. They show up differently in each person who has one, even among people in the same family.

LGMD causes weakness in the shoulder and pelvic girdle. That means the big muscles around the top (proximal) part of the arms and legs, so the hip, thigh and shoulder muscles.

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

In limb girdle muscular dystrophy (LGMD), this weakness 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 have problems walking and need a walking aid or wheelchair.

Sometimes the heart and breathing muscles are affected too, depending on which type of LGMD you have. You should have regular check ups for your heart and breathing function, so that any changes are picked up.

The specific type of limb-girdle MD decides how quickly it progresses. Some types develop rapidly, while others get worse slowly.

Limb girdle muscular dystrophy (limb girdle MD) is caused by genetic mutations. When someone has a mutation in one of the LGMD genes, the muscles can't work properly, and this makes them weaken.

To find the cause of LGMD, doctors may use a blood test or a muscle biopsy.

Your doctor will probably start by going through your symptoms, your family history and your own medical history to help diagnose limb girdle muscular dystrophy (LGMD).

Your family history can show where you might have inherited LGMD from. It also helps the doctor work out whether you have the autosomal dominant or the autosomal recessive form of LGMD.

A physical exam, which includes a neurological evaluation and a muscle strength test, can show which muscles are affected. That may help the doctor decide which form of muscular dystrophy you have.

A blood test might show a raised level of creatine kinase (CK), which can suggest a problem in the muscles. CK is a muscle enzyme.

Electromyography (EMG) is a test that measures how the muscle responds when its nerve supply is stimulated, and it also measures the electrical activity in the muscle. An MRI will show the pattern of muscles involved, and it can sometimes identify the type of LGMD you have.

The other tests can suggest LGMD as a likely diagnosis. A muscle biopsy can sometimes go further and show what kind of LGMD you have, because it's possible to identify the proteins that might be low or missing in different types of LGMD.

Unfortunately, a muscle biopsy alone is sometimes not enough to tell the exact types of LGMD apart. If that happens, genetic tests (a blood test) might be needed to confirm the exact diagnosis.

According to Muscular Dystrophy UK, 1 in 4 people with LGMD can't be given an exact diagnosis, even with all the available testing.

There's no cure for limb girdle muscular dystrophy (LGMD). But there are supportive treatments that can help you manage your symptoms.

It helps to find out which type of LGMD you have, because that can guide how your treatment is planned.

Regular exercise can help you keep your muscle function for as long as possible. Try to eat a healthy, balanced diet and keep to a healthy weight too. This takes some of the strain off muscles that are already weak.

Your breathing and heart function should be tested and monitored regularly, so that any problems are picked up. If a problem with your breathing or your heart is found early, treatment can start as early as possible, and that can save your life.

Bladder problems are common in people with muscle disorders like muscular dystrophy, and that includes limb girdle muscular dystrophy.

You might have urinary incontinence, which means you pee by accident. Weak pelvic floor muscles are often the cause, together with weakness of the core muscles.

You're more likely to have urinary incontinence if you:

• have poor mobility
• spend a lot of time sitting down

Pelvic floor exercise may help. If you have an urgent need to pee, medicine can sometimes help with that.

With limb girdle muscular dystrophy, you might have bowel problems such as:

• chronic constipation
• diarrhoea with little warning
• bowel incontinence

Some people drink less water than is recommended so they won't need the toilet during the day. This can cause dehydration, which makes constipation worse and adds to bowel problems.

A gentle laxative like Lactulose, taken regularly during the week, may help.