Duchenne Muscular Dystrophy (DMD)

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.

Signs and symptoms of DMD

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:

  • Motor delay - many children with DMD don't walk until after 18 months of age.
  • 'Toe-walking' - children start walking on their tip-toes. Toe-walking is often just a habit, but it can sometimes reflect a neurological problem.
  • Larger than normal calf muscles - called pseudohypertrophy.
  • A 'waddling' type of walk, with difficulty running and climbing stairs.
  • An unusual way of getting off the floor, called a 'Gowers’ manoeuvre'. This is a problem after 2½ years of age.
  • Delayed speed development occurs in some children with DMD.

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.

Inheritance

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.

Treatment

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.

Regular medical care

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.

At-home care

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.

Further reading

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.

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 is a slowly progressive disorder; your child’s needs will increase as he gets older.
  • 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.
  • For best clinical care it is very important to keep regular appointments with a neurologist, physiotherapist and other health care professionals.

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 rely on your doctor or therapists for expert and professional advice.

 

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