Kids Health Info

Duchenne Muscular Dystrophy DMD

  • Neuromuscular disorders are conditions that affect the nerves and the muscles. Muscular dystrophies (MD) are common neuromuscular disorders characterised by loss of muscle strength and bulk. There are several different types of MD. Each type has its own pattern of muscle weakness and progression over time.

    Types of MD include Duchenne, myotonic, limb-girdle, facioscapulohumeral, congenital, distal and Emery-Dreifuss muscular dystrophy. The Muscular Dystrophy Australia website (www.mda.org.au) has information on the different types of MD.

    Duchenne muscular dystrophy (DMD)

    Duchenne muscular dystrophy is also known as DMD. It is the most common type of muscular dystrophy. 

    Signs and symptoms of DMD

    DMD is usually first diagnosed at about three to four years old, although symptoms are common earlier than this. Early signs of DMD include:

    • 'Toe-walking' - children start walking on their tip toes.
    • Larger than normal calf muscles - called pseudohypertrophy.
    • Many children with DMD don't walk until after 18 months of age.
    • A 'waddling' type of walk.
    • Inability to run or climb stairs.
    • Affected children develop an unusual way of getting off the floor, called a 'Gowers sign'.
    • Some children with DMD also have delay in their speech development.

    DMD is a progressive disease. Children affected by DMD generally lose the ability to walk by 12 years of age, after which they need to use a wheelchair. The muscle degeneration in DMD affects all muscles of the body including the breathing muscles and the muscles that hold the spine straight.

    Inheritance

    DMD affects about one boy in every 3,500.  Girls are usually not affected but can be carriers. Problems with the dystrophin gene, causing DMD, can happen even without a family history of DMD.

    Where there is a known family history of DMD, families are encouraged to have genetic testing to find out the risk of having a child with DMD. Your family doctor or neurologist can help organise for you to have this test.

    Treatment

    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. 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.

    Physiotherapy

    Regular physiotherapy is important to keep your child mobile, healthy and comfortable.

    Regular medical care

    A neurologist will monitor your child's strength and general physical well-being, and may recommend steroid therapy to help with movement and breathing. The neurologist also checks for scoliosis (curvature of the spine) and monitors your child's breathing (respiratory) and heart (cardiac) function. Surgery can help with spine and foot problems.

    As DMD progresses over time, your child's needs will also change. Along with that, the amount of support and care your child needs will also change. Keep in regular contact and attend appointments with your child's neurologist, physiotherapist and support people and groups. They will all help to make sure your child is getting appropriate care and will help you to plan for the future. 

    At home care

    Modifications to your house will be needed over time to help your child remain mobile and independent. There are many items available to improve your child's comfort and independence, such as splints, 'AFO's' (ankle foot orthose), soft 'pressure care' mattresses, ramps and modified taps. Your child will need to be under the care of an experienced occupational therapist and physiotherapist to ensure his needs are being met.  

    The internet

    While the internet can be a source of good information, it can often be a source of false hope, inaccuracies and misleading information. Always read such information with great scepticism. Rely on your doctor or Muscular Dystrophy Australia for expert and professional advice.

    Siblings and family

    Parents, siblings and other family also need regular emotional support. 

    Key points to remember

    • DMD is a progressive disease causing increasing weakness of the muscles of the arms and legs, the breathing muscles and the heart.
    • DMD can be inherited or may occur in only one family member. Genetic testing is recommended, especially if you have a family history of neuromuscular disease.
    • It is essential to keep regular appointments with a neurologist, physiotherapist and other health care professionals.
    • DMD is a slowly progressive disorder and your son's needs will increase as he gets older.
    • You are not alone. The MDA and staff at the RCH are there to provide support, practical advice and comfort.

    For more information

    For more information on DMD and other types of muscular dystrophy, contact:

     

    Developed by RCH Neurosciences with input from Muscular Dystrophy Australia. First published Sept 2006. Revised October 2010.


Disclaimer 
This information is intended to support, not replace, discussion with your doctor or healthcare professionals. The authors of these consumer health information handouts have made a considerable effort to ensure the information is accurate, up to date and easy to understand. The Royal Children's Hospital, Melbourne accepts no responsibility for any inaccuracies, information perceived as misleading, or the success of any treatment regimen detailed in these handouts. Information contained in the handouts is updated regularly and therefore you should always check you are referring to the most recent version of the handout. The onus is on you, the user, to ensure that you have downloaded the most up-to-date version of a consumer health information handout.