Duchenne muscular dystrophy treatment

Medications

Medications help slow the loss of muscle function and treat the symptoms of DMD

Supportive care

Supportive care manages the complications of DMD and helps improve a person’s quality of life. This includes things like physiotherapy, heart monitoring and breathing support

Muscle health^1,7,8

Because DMD 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 DMD. They work on stretching out the muscles and keeping joints as flexible as possible.

Braces may be used to provide additional support for joints, typically the ankle, foot or knee. Sometimes a special type of brace may be recommended for your child while they sleep, which keeps their feet pointing downwards to help stop the Achilles tendon from becoming tight.

Standing is generally recommended for a few hours each day. This is because it can help promote better circulation and healthier bones, and also help maintain a straight spine. For children who need assistance, a standing walker or frame may be recommended.

As DMD progresses, a scooter, stroller or wheelchair may be needed to help your child get around and be more independent. Although many parents have understandable concerns if their child needs to start relying on a wheelchair to get around, many find that their child actually becomes much more mobile and energetic than they were before.

Many other types of mobility aid are available that can help as your child requires more and more assistance. These include wheelchair transfer boards, shower chairs and electronic beds. Talk to your child’s doctor or physiotherapist for more information on what help is available to you.

Specific surgical procedures may also be recommended for muscular symptoms that greatly interfere with a patient’s day-to-day life. If the muscles around the eye become weak, surgery can be used to lift droopy eyelids and improve a patient’s vision. Tendon contracture, when the tendons in a joint become short and tight, may be surgically loosened to increase their flexibility. Mobility in weak shoulder muscles may be improved by a surgical procedure known as ‘scapular fixation’, which involves attaching the shoulder blades to the back of the ribs.

Exercise^1,6,7

Regular exercise is important in children with DMD to keep their muscles as strong as possible. However, exercises that put too much stress on the legs (e.g. trampolining or activities that involve squatting, etc.) should be avoided as these can lead to muscle injury. Moderate, low-impact exercise for a short amount of time, so that your child doesn’t become too exhausted, is usually recommended.

Swimming and other swimming-pool-based activities are generally considered an ideal exercise choice for children with DMD, as the water helps reduce the amount of strain placed on the muscles. However, it’s always best to talk with the child’s doctor and physiotherapist to work out the most suitable exercise plan for your child.

Diet¹

DMD affects all muscles in the body, including the muscles that help control eating, swallowing and digestion. This can cause constipation and gastroesophageal reflux, as well as make chewing and swallowing difficult (sometimes referred to as ‘dysphagia’). If these are persistent and do not get better following changes to your child’s diet, medications may be prescribed to help keep them under control.

A healthy diet and weight are especially important for children with DMD. A dietitian will help make sure that your child 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.

As being obese or underweight/malnourished can occur as a result of both DMD itself and the medications used to manage it, your child should receive regular growth and weight assessments to ensure they are healthy. You can always talk to your child’s doctor or dietician if you have any concerns about your child’s weight.

Bone health⁵

Children with DMD 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.

Children with broken bones (fractures) in their spine can often show no symptoms, even when the fracture is severe. Scans such as X-rays are therefore used to detect the earliest signs of bone damage. Early detection of fractures is important to prevent further injury and also to identify children who are prone to fractures, as they may require more regular monitoring for bone damage.

The presence of scoliosis will usually be assessed at least once a year by your child’s doctor. It is generally assessed by simply looking at the child’s back to see if it curves to the side and, if suspected, the diagnosis is confirmed using an X-ray.

Medication may be used to treat osteoporosis. Surgery or casting may also be offered in the case of fractures or scoliosis.

Breathing support⁵

The muscles used for breathing are also affected by DMD. As the disease progresses, these muscles get weaker and people with DMD start to have trouble breathing and coughing.

Your child will receive regular tests to ensure that their lungs are working correctly and that they are not experiencing any breathing problems. Breathing problems can be reduced by various machines that help the lungs to breathe (ventilators) and cough (cough assist machines). In some cases, ventilation is only required when a child is sleeping, particularly when breathing problems interfere with their ability to sleep.

Heart health⁵

DMD affects all of the body’s muscles — including the heart. Often the signs and symptoms of heart damage are easy to miss, particularly in children who are no longer able to walk. That is why your child‘s heart health 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. It is important that any heart damage is diagnosed and treated as early as possible. If the heart becomes very damaged, it can have a big impact on your child’s health and quality of life.

It is believed around half of female DMD carriers also experience some degree of cardiomyopathy. It is therefore recommended that they undergo a complete cardiac assessment in early adulthood, which is then repeated every 3–5 years. This will usually include a procedure that scans the heart to allow the doctor to see if anything is wrong. The most commonly used heart imaging scans are an echocardiogram or a cardiovascular MRI.

Learning^2,3,9

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 DMD.

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.