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Muscular dystrophies (MD) are common neuromuscular (nerve and muscle) disorders, characterised by loss of muscle strength and bulk. Duchenne (doo-shen) muscular dystrophy (DMD) is the most common type of muscular dystrophy, affecting about one in every 3500
DMD is caused by a gene change or alteration, called a genetic mutation, in the dystrophin gene on the X chromosome.
DMD can occur randomly in a family or be inherited. Females are not usually affected by the symptoms of DMD, but can be carriers of the condition and pass it on to their children. Some carriers experience mild symptoms such as muscle weakness or cramping. Female carriers of DMD are also
at risk of developing cardiomyopathy (disease of the heart muscle) and should be reviewed by a cardiologist every few years.
DMD is inherited in a pattern called X-linked recessive. This means that almost all affected individuals with DMD are male, while females can be carriers. The son of a carrier mother has a 50 per cent chance of being affected, while the daughter of a carrier mother
has a 50 per cent chance of being a carrier too. It is extremely rare for females to be affected, though this can occur when a mother is a carrier and a father is affected. A carrier daughter can show very mild symptoms but often only discovers their carrier status when an affected son is born.
Female carriers with DMD mutations usually show no symptoms of the condition. However, some experience muscle pain and cramps with physical exertion, or muscle weakness in the limbs. Symptoms, if they occur, may happen at any time in life.
Heart problems in female carriers are usually mild and limited to changes that are noticed during a test called an echocardiogram (echo), which is an ultrasound looking at the heart muscle.
The following people should have genetic counselling and testing for DMD mutations:
This testing is not routinely offered to children, as they are too young to give their informed consent to the test. However, you can begin talking to your daughter about the need for testing and the consequences of being found to be a carrier from mid to late adolescence.
If my daughter is a DMD carrier, how likely is it that her
future children will have DMD?
If your daughter has a son, there is a 50 per cent chance
they will have DMD. If your daughter has a daughter, there is a 50 per cent
chance they will be a carrier too.
What can I do about my daughter's muscle pain and cramps?
If a female carrier is experiencing symptoms, the treatment
is the same as for people with DMD and may include physiotherapy and/or
Developed by The Royal Children's Hospital Neurology department. We acknowledge the input of RCH consumers and carers.
Reviewed June 2018.
This information is awaiting routine review. Please always seek the most recent advice from a registered and practising clinician.
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