Neuromuscular disorders are conditions that affect the nerves and the muscles.
Muscular dystrophies are neuromuscular disorders characterised by progressive loss of muscle strength. There are several different types of muscular dystrophies and each type has its own pattern of muscle weakness and progression over time. Common types of muscular dystrophies include Duchenne, Becker, myotonic, limb-girdle, facioscapulohumeral, congenital, distal and Emery-Dreifuss muscular dystrophy.
Duchenne muscular dystrophy, also known as DMD, is the most common type of muscular dystrophy in childhood.
DMD is usually first diagnosed at about three to four years of age, although the first symptoms are often present earlier than this. Early signs of DMD may include:
DMD is a slowly progressive disease. Children affected by DMD generally lose the ability to walk by 12 years of age, after which time they need to use a wheelchair to maintain independence. Muscle weakness in DMD affects all muscles of the body, including the breathing muscles and the muscles that hold the spine straight.
DMD affects about one in every 5000 boys. Girls are usually not affected, but occasionally do experience muscle weakness. DMD is a genetic condition. About a third of cases occur in children with no family history of DMD.
Where there is a known family history of DMD, families are encouraged to have genetic testing to find out their risk of having a child with DMD. Your family doctor or neurologist can help organise for you to have this test.
While there is no cure for this condition as yet, scientists around the world are working toward treatments which may make a significant difference to the outcomes of DMD. Treatment for DMD is aimed at reducing the symptoms of this disorder and keeping your child as healthy and active as possible, for as long as possible.
Children with DMD need to remain under the care of a neurologist who will monitor their strength and physical well-being. Most children with DMD are treated with corticosteroids. Steroids are the only medications proven to slow progression of muscle weakness in DMD.
The neurologist also checks for joint contractures and development of scoliosis (curvature of the spine), and monitors your child's breathing (respiratory) and heart (cardiac) function. Supportive treatment for DMD includes stretches and regular physiotherapy (see DMD- physiotherapy). Surgery is sometimes required for joint contractures and scoliosis.
As DMD progresses over time, your child's needs and the amount of support and care they need will change.
Modifications to your house may be required, over time, to accommodate the child with DMD’s changing physical abilities. Children with DMD should be under the care of an experienced occupational therapist and physiotherapist from the time of diagnosis.
Below is a list of topics that have been compiled by Australian neuromuscular healthcare professionals to teach you more about DMD. Each topic has multiple pages and resources for you to read through. Click on each heading to see a brief overview of each topic and a link to learn more. If you have any questions about the information presented below, please speak with your doctor or your hospital's neuromuscular nurse.
The heart is a muscle and, like other muscles in the body, is also affected by DMD. Monitoring and managing heart health is an important aspect of treatment for people with DMD including those with BMD and genetic carriers of the disease.
The main aim of a multidisciplinary approach to care for boys with DMD is to improve their quality of life and longevity. Immunisations form an integral part of their care to prevent long term complications and even death. Thus, it is very important for the families to be aware of the slight alterations in the immunisation schedule for children with DMD.
It is common for children with DMD to also experience some issues with learning and/or behavioural regulation. It can be useful to learn how your child’s brain functions close to their time of diagnosis. This will help you and your support team build a plan to support your child, setting them up to succeed as they move through all aspects of their life.
Medication used to treat the symptoms of DMD, in combination with a gradual decline in activity, means that a number of boys with DMD struggle to maintain a healthy weight. Maintaining healthy nutrition, and managing and preventing excessive weight gain, are vital components of daily care for patients with DMD.
Children with DMD may have some trouble with everyday tasks and hobbies because of tight muscles. Occupational therapists work together with children and their families to achieve their goals by building skills, making changes to activities and/or the environment, and providing specialised equipment or aides.
For children with DMD, a splint may help maintain positioning of the lower leg, and occasionally, a spinal brace may be used to support posture. An orthotist assesses, designs, and manufactures orthotics (braces or splints) for all parts of the body.
Orthopaedics specialists are doctors who are experts on bones, joints, and muscles. For children with DMD, orthopaedic specialists can help asses, advise, and plan for any changes or issues in these areas.
Regular physiotherapy is important to keep your child mobile, healthy and well. Physical activity without over-exertion, and normal social play, are recommended for children with DMD. At home, activities such as regular stretching, wearing night splints, and adhering to safe activity are all important parts of your child's daily routine.
Children with DMD have muscle weakness which affects their whole body, including their breathing and eventually their heart. This makes surgery a risky time and careful planning is needed with everyone working together to give children with DMD the best outcomes.
Steroid medicines are the only medication that have been proven to slow the progress of this condition. In Australia, most boys with DMD are treated with steroids, but there are significant side effects from steroids which need to be discussed with your treating doctor before starting them.
Wheeled mobility refers to either a wheelchair or a powered mobility scooter, which may be manual (pushed by the user or a carer) or battery powered (controlled by the user or a carer). Wheeled mobility devices can be used used by a young person with weakness to enhance their health, safety, wellbeing and participation in everyday life.
The following page is a list of all of the documents that have been featured in the topics listed above. You may wish to read and download these resources for you and your family. Please click the link below to find this list of documents.
While the internet can be a source of good information, it can often be a source of false hope, inaccuracies and misleading information. Always rely on your doctor or therapists for expert and professional advice.