Current treatments and therapies

Atularen, sold under the brand name Translarna, is licensed in the European Economic Area for treating ambulatory DMD patients aged five or older. It can only be given to patients who have a specific type of genetic defect called a nonsense mutation.  

A nonsense mutation causes a premature stop signal in the dystrophin gene, causing production of dystrophin to stop too soon. This means that the dystrophin protein cannot function normally and is destroyed by the cell. Approximately 13% of DMD cases are caused by this type of mutation.  

Atularen forces the cell to ignore the premature stop cell so that a full length, functional protein can be produced. Studies have shown that patients’ walking ability worsened to a lesser extent on Atularen compared to patients who had not had the treatment.  

This is currently the only treatment available in the UK that treats the underlying genetic causes of DMD.

Ataluren comes as granules provided in sachets.

Find out more about Translarna 

Corticosteroids, also known as glucocorticoids, are a type of steroid that is proven to slow down the progression of DMD. 

Steroids have been prescribed for DMD for over 20 years and are part of the international standards of care guidelines. The most commonly prescribed steroids for DMD are Prednisolone and Deflazacort.   

These are an anti-inflammatory drug which can slow the progression of weakness in the muscles, reduce the development of scoliosis (curvature of the spine) and delay breathing and heart problems. On average, children who take steroids walk for three years longer than those that don’t.  

However, long-term use of steroids causes side effects:  

Starting steroids 

Deciding if and when a child should start steroids can be a hard decision. Take time to discuss this decision with your doctor.  

Children usually start taking steroids between four and six years old, when their motor skills have stopped improving, but have not yet begun to decline.  

Make sure your child has received the following before starting:  

• Baseline assessments to measure height, weight, urine, bloods, Dexa, FVC, and if possible, ECHO. Take these assessments to your child’s doctors appointment or A&E if they have an emergency.  
• Routine vaccinations  
• Information on the procedure if they miss a dose  
• Information on the procedure if they have a sudden stressful event (such as accident or illness where doctors need to increase dosage)  
• Medical alert bracelet 
• Emergency information card 

If your child begins taking steroids, their doctor will monitor the benefits and side effects and reduce the dose if necessary. It is important not to suddenly stop taking steroids. 

The heart is a muscle and dystrophin is needed to make it work properly. DMD can cause a type of heart disease, called cardiomyopathy, where the heart muscle does not pump blood around the body efficiently. Around 90% of people with DMD eventually develop cardiomyopathy.   

Often, heart problems can occur without any symptoms, so children with DMD should have frequent heart checks. Heart function should be checked at least once every two years from the age of diagnosis until the age of ten. After the age of ten, they should be checked once a year, or as soon as symptoms occur.  

Heart function can be checked by echocardiogram (ECHO), electrocardiogram (ECG), or cardiac MRI.  

Female DMD carriers should also have regular heart checks as they may also have signs of cardiomyopathy.  

What treatments can be used to protect the heart? 

Several drugs and therapies are currently available to help protect the heart in DMD patients. These include: 

• ACE inhibitors and ARBs: Angiotensin converting enzyme (ACE) inhibitors and angiotensin receptor blocks (ARBs) relax the arterioles around the heart, helping the heart to pump blood more easily. Available drugs include enalaprin or lisinopril. 
• Beta-blockers:  These slow down the heart rate to help the heart work more efficiently. Available beta-blockers include bioprolol or carvedilol.  
• Diuretics: These help the body to remove water so there is less blood volume for the heart to pump. Diuretics may be prescribed when there are signs of heart failure.  
• Anti-arrhythmic therapy: This can prevent and treat abnormal heartbeats (arrhythmias)  
• Left ventricular assist devices (LVADs): these may increasingly be offered when there are signs of heart failure.  

There is also evidence suggesting that steroids can delay onset of cardiomyopathy.  

People with DMD often have weak bones or reduced bone mineral density, caused by decreased mobility, muscle weakness and the use of steroids.  

This can lead to the weakening and thinning of bones called osteoporosis, which makes fractures (broken bones) more likely. Occasionally it can lead to a curvature of the spine called scoliosis. 

Follow our emergency advice if your child has suffered a fracture. 

What treatments are available to protect the bones?  

Children with fragile bones can be given bisphosphonate treatments, such as zoledronic acid. This is a substance used to treat osteoporosis by strengthening the bones and reducing the amount of calcium being lost.  

It is usually given intravenously, through a drip. People with DMD tend to have infusions two or three times a year, depending on the advice of your doctor. 

Your doctor may also prescribe supplements such as Vitamin D and Calcium to improve bone health. Read more about supporting therapies below.  

Eteplirsen is not currently approved in the UK or Europe, but it is approved for use in the USA.   

Eteplirsen is an exon skipping drug produced by Sarepta Therapeutics.  

DMD can be caused when one more exons (parts of the gene) are missing, causing errors in the instructions for making dystrophin. Exon skipping works by skipping over certain exons so that the remaining exons can connect together, producing a shorter form of the dystrophin protein.   

Etepiliresen targets a specific exon on the dystrophin gene, Exon 51, so can only treat patients with a certain type of mutation on their dystrophin gene. About 14% of patients are able to benefit from this treatment.   

Drug approval and funding (reimbursement) is a complicated process where the approval body must weigh up the evidence of benefits and risks vs cost. Duchenne UK launched Project HERCULES in order to bring researchers and pharmaceutical companies together to increase chances of DMD treatments being reimbursed.

People with DMD need a healthy, well-balanced diet. It’s important to work with your doctor and dietician to make sure they get all the nutrients they need.  

Weight gain is common in DMD due to reduced mobility and the side effects from steroids. This can put pressure on already-weakened muscles. 

Constipation can also be a problem, caused by weakened stomach muscles and lack of mobility.  

Dieticians therefore recommend a high-protein diet with lots of fibre:  

• Vegetable protein, such as beans and soya 
• Fish and lean meats, such as chicken 
• Lots of fresh fruit and vegetables 
• Plenty of water to stay hydrated  

Refined foods such as white bread, sugars and pasta, and fatty meats such as beef, lamb and pork, should be reduced or excluded.   

Steroids and dietary considerations  

A healthy diet is even more important for children with DMD who take steroids because these put more strain on the body.  

People with DMD may need a low salt diet if using corticosteroids like prednisone or deflazacort. 

If your child experiences gastroesophageal reflux (GORD), then it may help to give them a low-fat, high-fibre diet with lots of whole grains, fruits and vegetables. 

Nutritional supplements 

Vitamin D and calcium supplements are the only two supplements recommended by the DMD Standards of Care. These can help keep muscles and bones strong. They should only be used when prescribed by a doctor.  

Vitamin D is found in sunshine, so opportunities to play outside are important.  

It can be dangerous to use other supplements bought online without a doctor’s advice. Speak to your doctor before trying any new supplement.  

For more information you can download The World Duchenne Organization leaflet on nutrition in DMD. 

They also have a series of videos on nutrition.

Physiotherapy is an important supporting therapy for people with DMD.  

Children with DMD should have a regular stretching routine, done daily or at least four to six times a week. This can delay contractures (when the muscles around the joints shorten and become fixed). Your physiotherapist will suggest a range of stretches.  

If contractures become extreme, surgery can relieve them, but this may mean that the patient then needs to wear leg braces.  

Your physiotherapist will also recommend braces and splints (also called orthotics or orthoses) which keep patients’ hands, feet, knees and back in the correct position. Using leg splints at night is recommended as soon as a DMD diagnosis is made. 

Watch the videos linked below for some commonly recommended stretches. These were made by PTC Therapeutics and filmed at Leeds Children’s Hospital.  

Calf, foot and ankle stretch

Using a standing wedge

Hip flexor stretch

Hip abductor/IT band stretch

Knee/hamstring stretch

Elbow, wrist and hand stretch

Wrist and hand self-stretch

Moderate exercise can help children with DMD manage their weight and feel better psychologically, but some exercises can damage the muscles.  

Experts recommend the following forms of exercise:  

• Swimming or other exercise in water. This is sometimes called hydrotherapy or aquatic therapy. The water can help protect against muscle strain and injury, while toning and improving breathing.  
• Horse riding. This can allow children to stretch and work muscles they may not be able to use on land. The Riding for the Disabled Association can help you find an appropriate class.  
• Cycling. If your child struggles to use a regular bike, try using a low geared tricycle. Tomcat Trikes has a range of options.   

Avoid exercises that put undue strain on muscles or that only exercise one side of the body. These include using scooters, trampolines and bouncy castles.   

Some children and young people with DMD have associated learning and behavioural difficulties, as dystrophin is present in the brain as well as muscle cells.  

All young people with DMD should have an Education Health and Care Plan (EHCP). EHCPs are documents which set out the education, healthcare and social needs of a child or young person aged 0 – 25.  

Early intervention is always best, so if a young person appears to have any difficulties it’s very important that you talk to the SENCO at nursery or school, or to your GP about referral to a speech therapist or other professional.  

Visit our Education Support page for more information on getting support for learning and behavioural difficulties 

DMD affects all muscles, including those needed for breathing. The lungs of people with DMD will get weaker as they get older and they may have trouble breathing (hypoventilation).   

Regular breathing tests  

People with DMD who are still walking should have a breathing test every year to measure forced vital capacity (FVC) and monitor lung function. Once they use a wheelchair, they should have more frequent breathing tests. Tests should also be undertaken before surgery and when unwell.  

Using ventilators and other breathing support  

As a teenager, it may be necessary to start using a BiPAP or CPAP machine (a ventilator) to assist with breathing at night.  

Symptoms of nocturnal hypoventilation include: fatigue, nightmares, headaches, poor concentration during the day, anxiety, disorientation, loss of appetite, softened voice and unproductive cough. 

Coughing may become difficult. This limits the ability to get expel mucus from the lungs and can cause infection. Cough assist machines are available for home use. 

As an older teenager or adult, an external ventilator may be needed to assist with breathing during the daytime. 

Treating infections and illness  

It is important that children with DMD have flu vaccinations and all recommended childhood vaccinations. Chest infections should be treated aggressively and early with antibiotics and physiotherapy.  

If anaesthesia is needed it should not be inhaled and succinylcholine should never be given. Care needs to be taken with administering oxygen. See our emergency care page for more information. 

Scoliosis 

As their back muscles weaken, people with Duchenne may develop scoliosis, or curvature of the spine. Once a person is in a wheelchair most of the time, it becomes more likely that scoliosis will develop. 

Parents and carers can play an important role in protecting a young person’s spine by regularly checking the seated position in the chair and making adjustments to prevent the young person leaning as they grow. 

If a curve in the spine starts to develop it is likely to progress rapidly and your child’s doctors may recommend spine surgery. 

The surgery involves straightening the spine by placement of a metal rod. People that have undergone this surgery have reported the following benefits: 

• Improvement in sitting comfort and stability 
• Removal of previous back pain 
• Not having to lean on one arm to maintain balance 
• Having a straighter, taller appearance 

Contractures & Heel-Cord Surgery 

Limb contractures are fixed tightening of muscles which can prevent normal movement. They are common in DMD and contribute to increased disability.  

There can be a loss of range of movement (ROM) in any joint in the body but this usually occurs first in the ankles. Different joints are affected at different stages of the disease. Evaluation of ROM should be done at every clinic visit and all joints should be assessed (shoulders, elbows, wrists, fingers, hips, knees and ankles). 

Physiotherapy (PT) is important to maintain ROM and should be started as early as possible and continued lifelong. The PT programme will be individual for each patient. 

Sitting and wheelchair positioning is critical for reducing contractions and the risk of scoliosis. Consistent use of night splints on the feet can help maintain function. Daytime resting hand splints can also assist with the prevention of hand/wrist/finger contractions. 

A surgical procedure on the foot that lengthens the Achilles tendon, also known as heel-cord surgery, allows the muscles to stretch. This may prolong walking/standing for up to three years when done at the right time. 

Wearable devices  

We hope wearable assistive devices could help those with DMD perform day-to-day activities with greater ease. The devices use cutting-edge military technologies. 

Duchenne UK made a grant of $200,000 to help support the Solid Suit program.  This is an ongoing program developed by Solid Biosciences, who are working with Seismic, a powered clothing company, on developing soft, wearable, assistive clothing which could help patients with DMD with movement. 

The wearable assistive devices could provide a power boost to patient’s movements without worsening the underlying muscle weakness and progression of inflammation.  

The project looks at a series of complementary components to make the assistive devices modular. Solid Biosciences hope that this strategy will allow users to mix and match components according to their individual needs.