Limb girdle muscular dystrophy
Limb girdle muscular dystrophy
Limb girdle muscular dystrophies (LGMD) are rare conditions. They can look quite different from person to person, even among people in the same family.
LGMD causes weakness in the shoulder and pelvic girdle. This includes the large muscles around the top, or proximal, part of the arms and legs, such as those in the hips, thighs and shoulders.
Common Symptoms
⚠️ This symptom list is for educational purposes. Having these symptoms does not mean you have this condition. See a doctor for proper diagnosis.
Medicines Commonly Used
⚠️ These medicines are commonly used for confirmed diagnoses of this condition. This is NOT a recommendation or prescription. Treatment must be determined by your doctor.
No medicines have been linked to this condition yet.
Causes
LGMD is caused by genetic mutations. When a person has a mutation in an LGMD gene, the muscles cannot work properly, and this makes them weaken.
A blood test or muscle biopsy may be used to find the cause of LGMD.
Read more about the different types of LGMD
Diagnosis
Doctors usually reach a diagnosis of LGMD by looking closely at your symptoms and your personal and family medical history. Knowing your family history can help show where the condition may have come from, and whether you have the autosomal dominant or autosomal recessive form.
A physical exam, including a check of your nervous system and a test of muscle strength, helps show which muscles are affected. This, in turn, can help point to which type of muscular dystrophy you have.
A blood test may show a raised level of creatine kinase (CK), a muscle enzyme; when it's high, it can mean there's a problem within the muscles. An electromyography (EMG) test checks how your muscles respond when their nerve supply is stimulated, along with the electrical activity inside the muscle itself. An MRI scan shows the pattern of muscles involved, and in some cases can even point to the specific type of LGMD you have.
These tests can strongly suggest LGMD, but they don't always give the full picture. A muscle biopsy is often needed to pin down the exact type, since it can reveal which proteins are low or missing. Even then, a biopsy alone doesn't always distinguish clearly between the different types of LGMD. When that happens, genetic testing, done through a simple blood sample, may be needed to confirm the exact diagnosis.
It's worth knowing that, according to Muscular Dystrophy UK, about 1 in 4 people with LGMD cannot be given an exact diagnosis, even after all available tests have been done.
Treatment
There is no cure for LGMD, but supportive treatment can help you manage your symptoms day to day.
Knowing exactly which type of LGMD you have makes it easier to plan the right treatment for you.
Regular exercise can help you keep your muscle strength and function for as long as possible.
Try to eat a healthy, balanced diet and stay at a healthy weight. This eases the strain on muscles that are already weakened.
Your breathing and heart function should be checked and monitored on a regular basis, so that any problems are caught early. Catching breathing or heart issues early means treatment can start sooner, and this can be lifesaving.
Treatment for bladder problems
Bladder problems are common among people with muscle disorders like muscular dystrophy.
You might notice urinary incontinence, where urine leaks out by accident. This usually happens because of weakness in the pelvic floor muscles combined with weakness in the core muscles.
You are more likely to experience urinary incontinence if you:
- have poor mobility
- spend long periods sitting down
Pelvic floor exercises can help with this. If you often feel a sudden, urgent need to urinate, medication may help ease it.
Treatment for bowel problems
You might experience bowel problems such as:
- long-term constipation
- diarrhoea that comes on with little warning
- bowel incontinence
If you drink less water than recommended to avoid needing the toilet during the day, this can lead to dehydration. This in turn can make constipation worse and add to your bowel problems.
Taking a gentle laxative such as Lactulose regularly through the week may help.