Muscular dystrophy - Treating muscular dystrophy

There is currently no cure for muscular dystrophy (MD), but a variety of treatments can help manage the condition.

As different types of MD can cause quite specific problems, the treatment you receive will be tailored to your needs. As your symptoms develop, the healthcare professionals treating you should advise you about the options.

New research is investigating possible future treatments. Improved genetic testing can help if you are concerned about passing the condition on to your children.

Read more about genetic testing.

Mobility and breathing assistance

As MD progresses, it weakens your muscles and you gradually begin to lose mobility and strength. These physical problems can be helped with the following:

• low-impact exercise, such as swimming
• physiotherapy can be useful for maintaining muscle strength, preserving flexibility and preventing stiff joints
• physical aids, such as a wheelchair, leg braces or crutches, can help you maintain standing and stay mobile

Once the chest muscles become too weak to control breathing properly, you may require machines to assist with your breathing and coughing, especially while sleeping.

Steroid medication

In people with Duchenne MD, corticosteroid (steroid) medication has been shown to improve muscle strength and function for six months to two years and slow down the process of muscle weakening.

Steroid medication for Duchenne MD is available in tablet or liquid form, and current research suggests a daily dose is most effective. However, long-term use of steroids is associated with significant side effects, such as weight gain and excessive hair growth. 

Creatine supplements

Recent research has also shown that a creatine supplement can help improve muscle strength in some people with MD while causing few side effects.

Creatine is a substance normally found in the body that helps supply energy to muscle and nerve cells. It is often available as a supplement from pharmacies and health food stores.

If you have MD and decide to take creatine supplements, make sure you mention this to your doctors (GP and specialist).

Treating swallowing problems

People with some types of MD find it increasingly difficult to swallow (dysphagia) as the condition progresses. This can increase your risk of choking or developing a chest infection if food and liquids get into the lungs.

Depending on the severity of your swallowing problems, there are a number of treatments that can be used.

For example, a dietitian may help you alter the consistency of your food and you may be taught some exercises by a speech and language therapist to help improve the function of your swallowing.

If necessary, surgery can also be used to treat swallowing problems. This may involve a minor procedure to cut one of the muscles in your throat, or a small balloon may be inflated in your gullet (oesophagus) to expand it.

If MD progresses to a point where you are unable to get enough nutrition by swallowing, a feeding tube (gastrostomy or PEG) may need to be surgically implanted into your stomach through your belly (abdomen).

Treating heart complications

Some types of MD can affect the heart muscles and the muscles used for breathing. When the condition has progressed to this stage, it can become life threatening.

It is important that your heart function is assessed regularly once MD has been diagnosed. For Duchenne and Becker MD, an electrocardiogram (ECG) examination of heart rhythm will be carried out at regular intervals, and an echocardiogram may also be performed from time to time. A magnetic resonance imaging (MRI) scan may sometimes also be used to check for problems with the heart.

If any damage to your heart is detected, you may be referred to a cardiologist (a heart specialist) for further tests and possibly more frequent monitoring.

You may also be prescribed medication to treat your heart problems, such as ACE inhibitors to relax your arteries and make it easier for your heart to pump blood around your body, or beta-blockers to control irregular heartbeats (arrhythmias or dysrhythmias).

In some cases of myotonic or Emery-Dreifuss MD, a pacemaker may be fitted to correct an irregular heartbeat. A pacemaker is a small, battery-operated device that can be implanted into your chest to regulate your heartbeat.

Corrective surgery

In some severe cases of MD, surgery may be necessary to correct physical problems that can occur as a result of the condition.

For example, if your child has Duchenne MD, there is a chance they will develop scoliosis (where the spine starts to curve sideways). Surgery can correct the scoliosis or prevent it getting worse, although there have been no trials to evaluate its effectiveness.

Other kinds of surgery may be used to treat specific symptoms, such as:

• droopy eyelids (ptosis) can be lifted away from the eyes to improve vision
• tight joints caused by tendon contractures can be loosened to improve movement by lengthening or releasing the tendons
• weak shoulder muscles may be improved by surgically fixing the shoulder blades to the back of the ribs (scapular fixation) – however, there have been no trials to evaluate the effectiveness of this treatment

If you or your child may benefit from having surgery, you will be referred to a specialist to discuss the procedure and the risks involved.

Research into treatments

New ideas for MD treatments are currently being developed.

Speak to your GP or specialist if you are interested in taking part in a clinical trial (a form of research that tests one treatment against another). You can also browse the database of clinical trials for muscular dystrophy.

Your GP or the healthcare professional treating you may know of any recent developments in healthcare that may benefit you.

Some examples of current research ideas are explained below.

Exon skipping

Trials are now in progress in the UK and Netherlands to see if "exon skipping" may be a useful way of treating Duchenne MD. Exons are sections of genetic coding (DNA) that contain information for proteins.

In Duchenne and Becker MD, some of the exons are missing or duplicated, which can interfere with the dystrophin protein being produced.

Researchers are currently investigating ways of "skipping" additional exons in the dystrophin gene. This could mean that more dystrophin would be produced, reducing the severity of MD symptoms.

The trials at the moment are focused on treatment that would apply to Duchenne MD, but it may become applicable to Becker MD in the future.

Stem cell research

Stem cells are cells that are at an early stage of development. This means they have the ability to turn into any type of cell in the body.

Some research is currently focusing on whether stem cells can be turned into muscle cells and used to regenerate damaged muscle tissue.