If you or your loved one has Duchenne, it is vital that you have access to the right information and advice.
Talking to your doctor about the services and support available is one of the most important steps you can take. That is because early management and care will give your family the best chance at living well with Duchenne.
In this video, Amaris Sanchez, psychologist and expert in the formation of identity, talks about transitions in Duchenne medical care. This includes what needs to happen as part of an effective healthcare transition, who is involved and where to go for more information. This video is in Spanish.
Starting treatment gives your loved one the best chance at living the best life possible.
3 ways treatment can help:
Stops the disease progressing so rapidly
Helps control symptoms
Helps you or your loved one lead a longer and healthier life
There are two main categories of treatment available for Duchenne:
Duchenne causes muscle weakness that gets worse over time.
This means that walking, standing and everyday tasks become increasingly difficult. Eventually, the muscles that control the heart and lungs stop working, although this typically takes many years.
While the progression and severity of symptoms of Duchenne differ for every child, most will experience some of the stages shown below.
Figure adapted from Birnkrant 2018 Part 3; Bushby 2010; Goemans 2014; Sussman 2002
If your child or loved one has Duchenne, it is not unreasonable to expect to live into their 30s and beyond. There is no reason why Duchenne should stop them earning a higher education degree, getting married or having a career.
Receiving a diagnosis of Duchenne can be a difficult time, but you are not alone. Your care team are there for you and will be able to offer information and support as you need it, so please reach out to them.
Figure adapted from Birnkrant 2018 Part 1; Birnkrant 2018 Part 2; Birnkrant 2018 Part 3; Muscular Dystrophy UK
Pushing for a prompt diagnosis for your child or loved one’s symptoms is the best possible way to get things moving.
The earlier the diagnosis, the sooner management and care can start and plans can be made. This means you and your loved one can:
As a result, the body cannot make dystrophin and muscles weaken. Over time, this muscle weakness leads to lots of health problems. Eventually, the muscles that control the heart and lungs stop working properly.
The good news is that starting treatment at the right time can have a positive impact on the way Duchenne progresses. Medications and other interventions can help slow down loss of muscle function and weakness.
Children who start treatment are able to walk for 2 to 5 years longer than they would without it.
While there is currently no cure for Duchenne, there are medications that can help protect the muscles and ease symptoms
Some target the underlying cause of Duchenne – a lack of dystrophin in the muscle. Others look at treating the symptoms caused by a lack of dystrophin. This includes things like weak bones, heart problems and trouble breathing.
These are the most commonly used medications for Duchenne that help relieve inflammation in the body. They are used to help maintain muscle strength for as long as possible.
Both the American Academy of Neurology (AAN) and the U.S. Centers for Disease Control and Prevention (CDC) guidelines recommend corticosteroids as a building block of treatment of Duchenne muscular dystrophy. Studies have shown that individuals taking corticosteroids for less than a year had prolonged their ability to walk compared to those taking a placebo.
It is recommended that individuals continue taking corticosteroids after they lose the ability to walk. Steroids may keep the upper limbs, heart and lungs strong for longer, as well as reduce the chance of developing scoliosis.
It is important to discuss the benefits of corticosteroids with your healthcare team. Long-term corticosteroid treatment has been shown effective in maintaining muscle function but not in recovering function once it is lost. That’s why early intervention is important.
These drugs slow down the progression of Duchenne. This is why they are called "disease-modifying."
Disease-modifying drugs target the dystrophin gene mutation. This allows the body to make a working form of the dystrophin protein.
However, disease-modifying drugs can only correct certain types of mutations of the Duchenne gene. This means that they are only suitable for a relatively small number of people with Duchenne. The only way to know for sure which type of mutation your child or loved one has is through genetic testing.
People with Duchenne may develop a heart problem called cardiomyopathy, which means weakness of the heart muscle.
This can be treated with several different medications. These include angiotensin-converting enzyme (ACE) inhibitors, angiotensin receptor blockers (ARBs), and beta blockers.
People with Duchenne often have weak bones and may develop a condition called osteoporosis. This makes the bones fragile and more likely to break.
Osteoporosis can develop for a number of reasons. Muscle weakness and the use of steroids contribute to bone weakness.
Bisphosphonates are a type of drug given to treat osteoporosis. They work by increasing bone strength.
People with Duchenne may be offered immunization with influenza (flu) and pneumococcal (pneumonia) vaccines, to help prevent chest infections.
Managing Duchenne takes more than just medication.
Because Duchenne weakens muscles throughout the entire body, it has a variety of effects on different body systems. This makes people with the disorder more susceptible to complications.
The best way to manage Duchenne involves a combination of approaches, and a team of different specialist doctors, nurses and healthcare professionals.
Because Duchenne causes the muscles in the body to become weak and damaged, maintaining muscle strength and function is a key part of care.
Physiotherapists, occupational therapists and other rehabilitation specialists play a major role in the care of people with Duchenne. They work on stretching out the muscles and keeping joints as flexible as possible.
As Duchenne progresses, a scooter, stroller or wheelchair may be needed to help you or your loved one get around and be more independent.
Duchenne affects all muscles in the body, including the muscles that help control eating, swallowing and digestion. This can cause constipation, gastroesophageal reflux, as well as make chewing and swallowing difficult.
A healthy diet and healthy weight are especially important for people with Duchenne. A dietitian will help make sure that your child or loved one receives a well-balanced diet and the right amount of nutrients, supplements and fluids. A gastroenterologist will also be able to help with any digestive problems.
People with Duchenne often develop a condition called osteoporosis. This makes the bones fragile and more likely to break. As back muscles become weaker, the spine may also begin to curve – this is known as scoliosis.
Radiographs or X-rays are used to detect the earliest signs of bone weakness, and medication may be used to treat osteoporosis. Surgery or casting may also be offered in the case of broken bones (fractures) or scoliosis.
Duchenne affects all of the body’s muscles – including the heart. That is why your child or loved one’s heart will be checked often by a cardiologist.
The cardiologist may suggest using medication if the heart is damaged – a condition called cardiomyopathy – or to help reduce future damage.
The muscles used for breathing are also affected by Duchenne. As the disease progresses, these muscles get weaker and people with Duchenne start to have trouble breathing and coughing.
Breathing problems can be reduced by various machines that help the lungs to breathe (ventilators) and cough (cough assist machines).
Because people with Duchenne often have trouble coughing, chest infections are more common. This is because coughing helps clear mucus and germs from the respiratory tract.
Chest infections may be treated with antibiotic medicine where needed. Influenza (flu) and pneumococcal (pneumonia) vaccines will also be offered. These vaccinations help prevent chest infections happening in the first place.
Dystrophin proteins have been found in the brain. The role that they play is unclear, but this could help explain why problems with learning, speech and behavior tend to be more common in people with Duchenne.
A number of different mental health professionals will be able to provide support, depending on the person’s individual needs. Schools will also be able to adapt to both physical and learning needs.