Existing treatments and therapies can help to ease DMD's symptoms. We're working to bring more effective treatments to patients by funding research and accelerating the drug development process.
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.
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.
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:
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:
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.
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:
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.
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.
Different countries have different medicine and healthcare regulatory agencies, 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 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.
Supporting therapies and technology can improve the quality of life of those living with DMD and ease the symptoms of the disease.
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:
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.
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.
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:
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.
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.
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:
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.
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.
There is currently no cure for DMD, but there is hope. We are at the forefront of advancing treatments and care for everyone affected by the disease.
Find out more about the research that Duchenne UK is funding to bring better treatments to patients, faster.
Duchenne UK has funded a three-year research project to investigate drugs that could delay muscle degeneration.Read More
Duchenne UK and the DMD Hub are launching a new pilot project aiming to provide fair and equal access to DMD trials across the UKRead More
Duchenne UK is disappointed to announce that a project investigating the potential of montelukast, an existing anti-inflammatory drug for asthma, to treat DMD failed to show benefit in a pre-clinical study.Read More
This quarter’s roundup focuses on the latest developments in DMD from the pharmaceutical industry.Read More
In a new transatlantic collaboration, Duchenne UK and the DMD Hub, PPMD and RTI International are conducting a study to explore attitudes towards gene therapy and gene editing from adults with Duchenne muscular dystrophy (DMD), parents and caregivers of children with DMD, and clinicians.Read More
The Clinical Trials Lectureship grant enabled Dr Michela Guglieri to act as the Clinical Research Team Leader within the John Walton Muscular Dystrophy Research Centre in NewcastleRead More
Last night we heard news from our friends at PPMD in the US that a young man has died while participating in Pfizer’s Phase 1B Open-Label study. Read Pfizer's statement to the community.Read More
Biotech company MyoGene Bio have received a grant to study innovative gene-editing therapy, thanks to support from Duchenne UK and other charities.Read More
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