Duchenne Muscular Dystrophy

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Duchenne muscular dystrophy (DMD) is one of many types of muscular dystrophy. Muscular dystrophy is a genetic condition that is characterised by the degeneration of muscle tissue and increased susceptibility to damage, it progressively worsens throughout a sufferers life.

Contents

Cause

DMD is caused by a mutation in the dystrophin gene, the largest known gene in the human genome, the mutation leads to a non-functional dystrophin protein being synthesised[1]. Dystrophin is essential in muscles and without the protein, the muscles will deteriorate and eventually resulting in death, usually in the first two to three decades of a sufferers life, this is due to the cardiac muscles, as well as those associated with breathing, eventually failing.

Treatment

There is currently no permanent cure for muscular dystrophy, there are, however a wide range of treatments designed to help minimise the effects of the disease and increase the patients quality of life.

Some of these treatments are changes to lifestyle, for example, light exercises such as swimming can help to lessen the effects. There are also some drugs that can be used to treat the condition, such as steroids. Steroids can help to reduce the rate of muscle loss and are effective for six months to two years.7[2]

Creatine can also be taken to help lessen the effects of the condition, it helps to improve muscle stregnth while causing very few side effects.[2]

The Future

More recently, genetic treatments are being developed to try and cure the disease entirely, this has not yet been successfull but it is hoped that with continued research the dystrpohin gene can be replaced in it's entirety for a functioning copy.[3]

References:

  1. http://jp.physoc.org/site/misc/editorinterviews.xhtml#kdavies
  2. 2.0 2.1 http://www.nhs.uk/Conditions/Muscular-dystrophy/Pages/Treatment.aspx
  3. http://www.ncbi.nlm.nih.gov/pubmed/18422374
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