Get support
Ask your specialist doctor to put you in touch with your care team. This is the group of specialists who work together to provide the best and most appropriate care for the individual with Duchenne.
CARING FOR SOMEONE WITH DUCHENNE MUSCULAR DYSTROPHY
Duchenne is progressive, so individuals will require different kinds of care as they pass through different stages of the condition. Disease management strategies exist that can help maintain muscle function and slow the progression of the disease for as long as possible. This can help delay complications so individuals with Duchenne can live more independently and longer than ever before.
All over the world, scientists are researching new disease management strategies for Duchenne to help treat the disease. A specialist doctor can help determine which disease management strategies are appropriate for children and adults with Duchenne.
WHAT CAN HELP TO TREAT DUCHENNE MUSCULAR DYSTROPHY?
Current care strategies focus on maintaining muscle function for as long as possible and managing the symptoms of Duchenne. These can be divided into two main categories:
MEDICATIONS
Drugs that help slow down muscle damage and treat the symptoms of Duchenne.
SUPPORTIVE CARE
Treats the complications of Duchenne and helps improve a person’s quality of life.
WHICH HEALTHCARE PROFESSIONALS ARE INVOLVED IN CARING FOR A CHILD WITH DUCHENNE MUSCULAR DYSTROPHY?
Although caring for a child with Duchenne requires that many healthcare professionals work together, a child’s primary doctor – often a paediatric neurologist – will usually coordinate the care.
Various healthcare professionals will be needed at different stages of the condition. They provide support to maximise quality of life and help maintain independence. When all those involved in a child’s care work together, the challenges associated with Duchenne can be easier to deal with.
Your Duchenne care team:
Figure references: Birnkrant 2018 Part 1; Birnkrant 2018 Part 2; Birnkrant 2018 Part 3; Muscular Dystrophy UK
Take
action
action
HOW DOES DUCHENNE CHANGE OVER TIME?
Duchenne causes muscle weakness, which gets worse over time, resulting in increasing difficulty in performing everyday tasks and functions, such as walking, standing, and breathing. This leads to an increasing loss of independence.
Duchenne typically progresses slowly, but the rate of progression and severity of symptoms differ for every child.
Figure references: Sussman 2002; Birnkrant 2018 Part 3; Eagle 2002; Bushby 2010; Goemans 2014; van Ruiten 2014
Phases of Duchenne
You may hear doctors and other sources of information refer to the different phases (or stages) of Duchenne, which describe how Duchenne progresses over time.
Typically, Duchenne progresses through the following four stages, although they may be referred to by different names.
1. Early phase
At the earliest point of this phase the signs and symptoms are generally unnoticed or unrecognised. Signs of Duchenne which may be noticed include speech delay or the inability to keep up with peers, or both. Gradually problems start to appear with walking, running or jumping.
2. Transitional phase
Walking starts to become difficult and physical signs of Duchenne, such as Gowers’ sign, waddling gait, and walking on toes, become noticeable. Fatigue is common. As the condition progresses use of a wheelchair may be necessary for long distances. The heart and breathing muscles should be monitored even if there are no noticeable problems at this stage.
3. Loss of ambulation
By this phase, most people with Duchenne are unable to walk and require a wheelchair on a regular basis. Scoliosis may begin to develop and it is important to talk to doctors about appropriate exercises. The heart and breathing muscles should be monitored regularly and any problems should be treated. Home adaptations will be needed as will support at school.
4. Adult phase
During this phase, a powered wheelchair is required at all times and hoists will be needed in the home. Upper limb function and good posture are increasingly difficult. Heart medication and breathing support may also be required. Transition to adult medical services will need to be arranged.
People with Duchenne are living longer than ever before
Thanks to advances in standards of care, many people with Duchenne are living into their 30s and beyond. More and more young adults with Duchenne are attending university and pursuing rewarding careers.
Early care: why is it so important?
Pushing for a prompt diagnosis for your loved one’s symptoms is the best possible way to get things moving.
The earlier the diagnosis, the sooner treatment can start and plans can be made. This means you and your loved one can:
- Be referred to specialist teams near you
- Start treatment as soon as needed
- Get access to genetic counselling
- Enable testing of family members at risk
- Find out whether you are eligible for financial assistance
- Plan ahead and make changes to employment and housing
- Make decisions about potential future pregnancies
- Learn about clinical trials to access potential new drug treatments
- Get support from local patient organisations and other patients
How do Duchenne treatments work?
Duchenne is caused by a mutation in the gene that codes for dystrophin – a protein that helps to keep muscles working properly.
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.
Duchenne treatments help you stay mobile longer
They help to delay complications so you or your loved one can live more independently and longer than ever before.
Take
action
action
The best time to treat is now
Ask your doctor about the treatment options available to you.
Ask your doctor about the treatment options available to you.
What medications are available to treat Duchenne?
While there’s currently no cure for Duchenne, there are medications that can help maintain muscle function and delay complications. 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, such as weak muscles, heart problems and breathing difficulties.
Steroids (also called corticosteroids or glucocorticoids)
Corticosteroids are the most commonly used treatment for Duchenne. They do not address the underlying cause of the condition but they can help manage the symptoms by preserving muscle strength and movement, and by minimising later complications such as scoliosis (a curvature of the spine) and breathing difficulties.
It is important to monitor children who take steroids over a long period of time because the drugs can cause side effects. Your doctor will provide you with information about these side effects.
Medications that target the underlying cause of the disease
Duchenne is caused by a mutation in the gene that codes for dystrophin – a protein that helps to keep muscles working properly. As a result, the body cannot make dystrophin.
Medications that target the underlying cause of the disease allow the body to make a working form of the dystrophin protein.
Currently, medicines that target the underlying cause of the disease are only suitable for some patients with Duchenne, due to the way in which they work. Multiple different treatment strategies are emerging, some of which are in clinical trials. You should talk to your child’s doctor about treatment options because they are best placed to advise you on medical matters.
Heart medications
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.
Bone medications
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.
Vaccinations
People with Duchenne will be offered immunisation with influenza (flu) and pneumococcal (pneumonia) vaccines, to help prevent chest infections.
What supportive care options are available for individuals with Duchenne?
Duchenne causes muscle weakness throughout the entire body and causes a variety of effects on different body systems. This means that people with Duchenne are more susceptible to other health-related complications.
Supportive care is care that focuses on relieving problems that result directly from muscle weakness – such as difficulty breathing and digestive complications. This requires a combination of approaches and a team of different specialist doctors, nurses and healthcare professionals.
Common supportive care options are described below.
Muscle health
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, wheelchair or knee-ankle-foot orthoses may be needed to help your child get around and be more independent.
Diet
Duchenne affects all muscles in the body, including the muscles that help control eating, swallowing and digestion. This can cause constipation, gastro-oesophageal reflux, as well as make chewing and swallowing difficult.
A healthy diet and healthy weight are especially important for people with Duchenne. A dietician will help make sure that you or your child receive 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.
Bone health
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.
Heart health
Duchenne affects all of the body’s muscles – including the heart. That’s why your or your child’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.
Breathing support
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 helped by various machines that help the lungs to breathe (ventilators) and cough (cough assist machines).
Vaccinations
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) vaccine (the injectable rather than nasal version) and pneumococcal (pneumonia) vaccines will also be offered. These vaccinations may help prevent chest infections happening in the first place.
Learning and behaviour
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 behaviour 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.