Current treatments and therapies can slow down DMD progression and improve quality of life.
We're working to bring more effective treatments to patients by funding research and accelerating drug development, as well as working to improve standards of care in the UK through the DMD Care UK project.
The best care for DMD
Receiving the right treatment and care has a big impact on people with DMD’s quality of life and life expectancy.
The following medications can be prescribed to treat Duchenne muscular dystrophy and some of the complications of the disease. Not all treatments are suitable for every patient or for every stage of DMD, so speak to your doctor about your/your child's needs.
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.
Benefits and side effects of steroids
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:
Benefits
Side Effects
Slows the progression of weakness in children’s muscles
Reduces the development of scoliosis (curvature of the spine)
Delays breathing and heart problems
When should I start 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)
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.
What do I need to know about stress dosing?
If your child becomes ill, has an accident or operation, they will need a stress dose of steroids. This is because of a side effect of steroid use called adrenal insufficiency or adrenal suppression, where the body does not make enough of the hormone cortisol. Download DMD Care UK’s booklet to find out more.
In 2020, Duchenne UK ran a webinar on steroids to help families understand how to manage stress dosing.
Ataluren, sold under the brand name Translarna by PTC Therapeutics, is currently licensed in the European Economic Areafor treating ambulatory DMD patients aged five or older. It comes in granuels provided in sachets.
How does Ataluren work?
Ataluren 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 Ataluren 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.
How can patients access Ataluren?
Ataluren is currently under ‘Managed access agreement’ in the UK until 2023. This means that PTC Therapeutics will need to submit more data to NICE by January 2023, which will determine how ataluren will be commission when the managed access agreement ends.
Other medications and supporting therapies can improve the quality and length of life of those living with DMD and ease the symptoms of the disease. The below recommendations are based on research and clinical expertise and follow the clinical recommendations fromDMD Care UK.
People with DMD should have a documented emergency plan, prepared with your GP or neuromuscular consultant. This should cover information about medication your child is taking, any medical issues specific to your child and the contact details for their doctor.
Duchenne UK’s In Case of Emergencies app allows you to keep a profile of your/your child’s medical needs and emergency contacts, and provides guidance to medical professionals on treating DMD patients in accidents and emergencies.
If your child is dependent on steroids, order a steroid dependent wristband to alert doctors that they need extra steroids when unwell. DMD medical alert cards are also available from MDUK. Carry these with you/your child at all times.
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.
DMD Care UK recommends that people with DMD should:
be prescribed heart medication by the age of 10 (ACE inhibitors or ARBs)
continue to have yearly heart checks into adulthood
Heart problems can occur without any symptoms, so symptoms should not be a guide to starting medication.
Female DMD carriers should also have regular heart checks every 3 – 5 years as they can be at risk 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 that steroids can delay onset of cardiomyopathy.
Find out more about caring for the heart in DMD by downloading the DMD Care UK patient information booklet.
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.
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.
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.
In 2020, Duchenne UK ran a webinar about nutrition in DMD:
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.
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.
Even in later stages of DMD, getting involved in disability sports like powerchair football or boccia can be good for physical and mental health.
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.
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.
Somechildren 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.
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.
Assistive technology can help people living with DMD live more independently. This includes smartphone apps, voice activation and devices to control appliances and utilities.
Duchenne UK is investing in improving the technology available to people living with DMD and related disabilities, including an innovative wheelchair design that meets the needs of young people and an exoskeleton suit to support movement in people with upper limb mobility loss.
Treatments approved outside the UK
Different countries have medicine and healthcare regulatory agencies with different criteria for drug approval, so some treatments that have not been approved for use in the UK are available elsewhere.
Eteplirsen is not currently approved in the UK or Europe, but it is approved for use in the USA.
Eteplirsen is an exon skippingdrug 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.
Interim decision: ataluren (Translarna) not recommended for NHS
NICE has released draft guidance which does not recommend the use of ataluren on the NHS for the treatment of Duchenne muscular dystrophy (DMD) with a nonsense mutation in the dystrophin gene.
Study paves the way for improved detection of heart disease in female carriers of DMD
A recent report from a study funded by Duchenne UK has improved understanding of early detection of heart muscle disease in female carriers of Duchenne muscular dystrophy (DMD), paving the way for further research.
Research we fund
