In this section
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 is also known as
DMD. It is the most common type of
DMD is usually first
diagnosed at about three to four years old, although symptoms are common
earlier than this. Early signs of
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.
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 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.
Regular physiotherapy is
important to keep your child mobile, healthy and
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
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.
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
Parents, siblings and other
family also need regular emotional support.
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.