Understanding DMD

The Muscular Dystrophy Campaign has published three new guides highlighting the gaps in services for young adults with muscle disease.

We are pleased to be able to offer a 'Doctors Leaflet', produced with the kind help of Professor Muntoni of Hammersmith Hospital, a leading expert in DMD. This leaflet describes the condition and its effects in greater detail than presented here.

Duchenne and Becker muscular dystrophy (MD) are caused by an abnormality (mutation) of the dystrophin gene, which is on the X chromosome. The dystrophin gene is responsible for telling the body how to make the protein dystrophin, which is essential for normal muscle function; dystrophin is also present in the heart and in the brain. The exact nature of the mutation determines whether the result is a male with Duchenne MD, or the milder condition of Becker MD.

DMD is a genetic disorder which affects boys and can be “carried” by some healthy female relatives.The DMD gene is damaged so an important protein called dystrophin is missing. Young boys appear healthy but the muscles gradually weaken as they grow. The heart and breathing muscles can also be affected when older.

Although it is a commonly held belief that carriers merely pass on the disease and are unaffected, female carriers can have similar muscular weakness as affected males and for this reason are termed Manifesting Carriers. This condition can occur with no known family history of DMD so all females who are suspected of having any form of muscular dystrophy should be tested to determine if they could be Manifesting Carriers because of the genetic implications